VMCM
MCID: VNS013
MIFTS: 46

Venous Malformations, Multiple Cutaneous and Mucosal (VMCM)

Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Venous Malformations, Multiple Cutaneous and Mucosal

MalaCards integrated aliases for Venous Malformations, Multiple Cutaneous and Mucosal:

Name: Venous Malformations, Multiple Cutaneous and Mucosal 57 13 44 39
Multiple Cutaneous and Mucosal Venous Malformations 12 25 43 29 6 15
Vmcm 57 12 25 43 58 72
Mucocutaneous Venous Malformations 12 43 58
Cutaneous and Mucosal Venous Malformation 58 36
Vmcm1 57 43
Dominantly Inherited Venous Malformations 72

Characteristics:

Orphanet epidemiological data:

58
mucocutaneous venous malformations
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: normal life expectancy;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant (9p)


HPO:

31
venous malformations, multiple cutaneous and mucosal:
Inheritance autosomal dominant inheritance


GeneReviews:

25
Penetrance Approximately 90% of individuals who have a germline pathogenic gain-of-abnormal-function variant in tek develop mucocutaneous venous malformations by age 20 years; conversely, approximately 10% of individuals with a germline gain-of-abnormal-function tek pathogenic variant are clinically unaffected [boon et al 2004, wouters et al 2010]. reduced penetrance can be explained by the need to acquire a second, somatic pathogenic gain-of-abnormal-function variant in the wild type or the already mutated tek allele in the target cell(s) to develop a lesion(s) [limaye et al 2009, soblet et al 2017].

Classifications:

Orphanet: 58  
Rare circulatory system diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0050792
OMIM® 57 600195
KEGG 36 H02044
MeSH 44 C563977
SNOMED-CT 67 699301008
ICD10 via Orphanet 33 Q27.8
UMLS via Orphanet 71 C1838437
Orphanet 58 ORPHA2451
MedGen 41 C1838437
UMLS 70 C1838437

Summaries for Venous Malformations, Multiple Cutaneous and Mucosal

OMIM® : 57 Cutaneomucosal venous malformation (VMCM) is an uncommon, heritable form of venous malformation in which lesions tend to be multifocal and small. They are composed of grossly dilated vascular spaces lined by a single continuous layer of endothelial cells, with areas of relative lack of surrounding mural cells, suggesting a defect in their recruitment. Some VMCM patients have venous malformations located in internal organs, and some have additional anomalies, including cardiac malformations (summary by Wouters et al., 2010). Another form of autosomal dominant venous malformation, blue rubber bleb nevus (112200), is of uncertain relationship to VMCM. Multiple cerebrovenous anomalies without cutaneous lesions are also familial; see cerebral cavernous malformations (116860). Glomuvenous malformations (138000) are similar to but clinically distinguishable from VMCMs. (600195) (Updated 20-May-2021)

MalaCards based summary : Venous Malformations, Multiple Cutaneous and Mucosal, also known as multiple cutaneous and mucosal venous malformations, is related to glomuvenous malformations and familial glomangioma. An important gene associated with Venous Malformations, Multiple Cutaneous and Mucosal is TEK (TEK Receptor Tyrosine Kinase), and among its related pathways/superpathways are PI3K-Akt signaling pathway and HIF-1 signaling pathway. Affiliated tissues include endothelial, brain and liver, and related phenotypes are abnormality of the mouth and intestinal bleeding

Disease Ontology : 12 A vein disease that is characterized by multiple bluish cutaneous or mucosal venous lesions.

MedlinePlus Genetics : 43 Multiple cutaneous and mucosal venous malformations (also known as VMCM) are bluish patches (lesions) on the skin (cutaneous) and the mucous membranes, such as the lining of the mouth and nose. These lesions represent areas where the underlying veins and other blood vessels did not develop properly (venous malformations). The lesions can be painful, especially when they extend from the skin into the muscles and joints, or when a calcium deposit forms within the lesion causing inflammation and swelling.Most people with VMCM are born with at least one venous malformation. As affected individuals age, the lesions present from birth usually become larger and new lesions often appear. The size, number, and location of venous malformations vary among affected individuals, even among members of the same family.

KEGG : 36 The multiple cutaneous and mucosal venous malformations (VMCM) is characterized by the presence of small, multifocal bluish cutaneous and mucosal venous malformations. TEK (TIE2) is the only gene in which pathogenic variants are known to cause VMCM. TIE2 is vascular endothelial cell specific receptor tyrosine kinase, that plays a crucial role in angiogenesis and cardiovascular development.

UniProtKB/Swiss-Prot : 72 Dominantly inherited venous malformations: An error of vascular morphogenesis characterized by dilated, serpiginous channels.

GeneReviews: NBK1967

Related Diseases for Venous Malformations, Multiple Cutaneous and Mucosal

Diseases related to Venous Malformations, Multiple Cutaneous and Mucosal via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 37)
# Related Disease Score Top Affiliating Genes
1 glomuvenous malformations 31.2 KRIT1 GLMN
2 familial glomangioma 10.2 TEK GLMN
3 glomangioma 10.2 TEK GLMN
4 blue rubber bleb nevus 10.2 TEK GLMN
5 weber syndrome 10.2 RASA1 ACVRL1
6 benign perivascular tumor 10.2 TEK GLMN
7 taylor's syndrome 10.1 SYNGAP1 RASA1
8 hemangioma of subcutaneous tissue 10.1 GLMN AGGF1
9 intramuscular hemangioma 10.0 TEK ANGPT1
10 stork bite 10.0 TEK SYNGAP1 RASA1
11 capillary hemangioma 10.0 TEK SYNGAP1 RASA1
12 angiokeratoma circumscriptum 10.0 TEK ANGPT1
13 malignant renovascular hypertension 10.0 TEK ANGPT1
14 malignant secondary hypertension 10.0 TEK ANGPT1
15 sturge-weber syndrome 9.9 SYNGAP1 RASA1
16 intussusception 9.9 TEK ANGPT1
17 cardiovascular organ benign neoplasm 9.9 SYNGAP1 RASA1 ACVRL1
18 proteus syndrome 9.8 SYNGAP1 RASA1 GLMN AGGF1
19 placenta accreta 9.8 TEK ANGPT1
20 intracranial structure hemangioma 9.6 PDCD10 KRIT1 CCM2
21 intracranial cavernous angioma 9.6 PDCD10 KRIT1 CCM2
22 brain angioma 9.6 PDCD10 KRIT1 CCM2
23 hemangioma of liver 9.6 PDCD10 KRIT1 CCM2
24 cerebral cavernous malformation, familial 9.6 PDCD10 KRIT1 CCM2
25 cavernous malformation 9.6 PDCD10 KRIT1 CCM2
26 cerebral angioma 9.6 PDCD10 KRIT1 CCM2
27 cerebral cavernous malformations 3 9.6 PDCD10 KRIT1 CCM2
28 cerebral cavernous malformations 2 9.6 PDCD10 KRIT1 CCM2
29 cerebrocostomandibular syndrome 9.6 PDCD10 KRIT1 CCM2
30 cavernous hemangioma 9.5 PDCD10 KRIT1 CCM2
31 arteriovenous malformations of the brain 9.5 TEK SYNGAP1 RASA1 PDCD10 ACVRL1
32 cerebral cavernous malformations 9.4 TEK PDCD10 KRIT1 CCM2
33 arteriovenous malformation 9.4 TEK RASA1 PDCD10 ANGPT1 ACVRL1
34 hemorrhagic disease 9.3 PDCD10 KRIT1 CCM2 ACVRL1
35 hemangioma 9.2 TEK PDCD10 KRIT1 CCM2 ANGPT1
36 vascular disease 8.9 PDCD10 KRIT1 GLMN CCM2 ANGPT1 ACVRL1
37 klippel-trenaunay-weber syndrome 8.7 TEK SYNGAP1 RASA1 PDCD10 KRIT1 GLMN

Graphical network of the top 20 diseases related to Venous Malformations, Multiple Cutaneous and Mucosal:



Diseases related to Venous Malformations, Multiple Cutaneous and Mucosal

Symptoms & Phenotypes for Venous Malformations, Multiple Cutaneous and Mucosal

Human phenotypes related to Venous Malformations, Multiple Cutaneous and Mucosal:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of the mouth 31 HP:0000153
2 intestinal bleeding 31 HP:0002584
3 venous malformation 31 HP:0012721

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Mouth:
mucosal bleeding
maxillary and mandibular deformity

G I:
variable gastrointestinal bleeding

Vascular:
cutaneous and mucosal venous malformations

Clinical features from OMIM®:

600195 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Venous Malformations, Multiple Cutaneous and Mucosal:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.06 ACVRL1 AGGF1 ANGPT1 CCM2 GLMN KRIT1
2 embryo MP:0005380 10.02 ACVRL1 AGGF1 ANGPT1 CCM2 GLMN KRIT1
3 growth/size/body region MP:0005378 9.97 ACVRL1 ANGPT1 CCM2 GLMN KRIT1 PDCD10
4 mortality/aging MP:0010768 9.96 ACVRL1 AGGF1 ANGPT1 CCM2 GLMN KRIT1
5 muscle MP:0005369 9.7 ACVRL1 ANGPT1 CCM2 KRIT1 PDCD10 RASA1
6 nervous system MP:0003631 9.65 ACVRL1 AGGF1 ANGPT1 CCM2 GLMN KRIT1
7 vision/eye MP:0005391 9.1 ANGPT1 CCM2 KRIT1 PDCD10 RASA1 TEK

Drugs & Therapeutics for Venous Malformations, Multiple Cutaneous and Mucosal

Search Clinical Trials , NIH Clinical Center for Venous Malformations, Multiple Cutaneous and Mucosal

Cochrane evidence based reviews: venous malformations, multiple cutaneous and mucosal

Genetic Tests for Venous Malformations, Multiple Cutaneous and Mucosal

Genetic tests related to Venous Malformations, Multiple Cutaneous and Mucosal:

# Genetic test Affiliating Genes
1 Multiple Cutaneous and Mucosal Venous Malformations 29 TEK

Anatomical Context for Venous Malformations, Multiple Cutaneous and Mucosal

MalaCards organs/tissues related to Venous Malformations, Multiple Cutaneous and Mucosal:

40
Endothelial, Brain, Liver, Placenta

Publications for Venous Malformations, Multiple Cutaneous and Mucosal

Articles related to Venous Malformations, Multiple Cutaneous and Mucosal:

(show all 32)
# Title Authors PMID Year
1
Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects. 61 57 25 6
19888299 2010
2
Allelic and locus heterogeneity in inherited venous malformations. 25 6 61 57
10369874 1999
3
Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2. 57 6 25
8980225 1996
4
Assignment of a locus for dominantly inherited venous malformations to chromosome 9p. 57 6 25
7833915 1994
5
Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations. 61 25 57
19079259 2009
6
A gene for familial venous malformations maps to chromosome 9p in a second large kindred. 57 6
7783168 1995
7
Common and specific effects of TIE2 mutations causing venous malformations. 25 6
26319232 2015
8
Quantitative DNA pooling to increase the efficiency of linkage analysis in autosomal dominant disease. 57
9521591 1998
9
A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9q33-34. 57
8162075 1994
10
Familial vascular malformations. Report of 25 members of one family. 57
6478643 1984
11
Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations. 25
27519652 2017
12
Somatic Activating PIK3CA Mutations Cause Venous Malformation. 25
26637981 2015
13
Rapamycin improves TIE2-mutated venous malformation in murine model and human subjects. 25
26258417 2015
14
Venous malformation-causative TIE2 mutations mediate an AKT-dependent decrease in PDGFB. 25
23633549 2013
15
Genotypes and phenotypes of 162 families with a glomulin mutation. 25
23801931 2013
16
Somatic uniparental isodisomy explains multifocality of glomuvenous malformations. 25
23375657 2013
17
Venous malformation: update on aetiopathogenesis, diagnosis and management. 25
20870869 2010
18
Association of localized intravascular coagulopathy with venous malformations. 25
18645138 2008
19
Congenital plaque-type glomuvenous malformations presenting in childhood. 25
16847206 2006
20
Four common glomulin mutations cause two thirds of glomuvenous malformations ("familial glomangiomas"): evidence for a founder effect. 25
15689436 2005
21
Glomuvenous malformation (glomangioma) and venous malformation: distinct clinicopathologic and genetic entities. 25
15313813 2004
22
Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations ("glomangiomas"). 25
11845407 2002
23
Ethanol sclerotherapy of venous malformations: evaluation of systemic ethanol contamination. 25
11340138 2001
24
Endothelial receptor tyrosine kinases activate the STAT signaling pathway: mutant Tie-2 causing venous malformations signals a distinct STAT activation response. 25
9926914 1999
25
Facial cutaneo-mucosal venous malformations can develop independently of mutation of TEK gene ´╗┐but may be associated with excessive expression of Src and p-Src. 61
28316284 2017
26
Variable Somatic TIE2 Mutations in Half of Sporadic Venous Malformations. 61
23801934 2013
27
Cutaneomucosal venous malformations are linked to the TIE2 mutation in a large Chinese family. 61
22621187 2012
28
[Haplotype analysis for mucocutaneous venous malformations in a Chinese Han ethnic family]. 61
22522160 2012
29
Multiple Cutaneous and Mucosal Venous Malformations 61
20301733 2008
30
[Pathogenesis and genetics of vascular anomalies]. 61
16997448 2006
31
Transition-metal (Ti,V,Cr,Mn,Fe,Co,Cu) containing ordered nanoporous materials: novel heterogeneous catalysts for selective oxidation reactions. 61
17025080 2006
32
Human villous macrophage-conditioned media enhance human trophoblast growth and differentiation in vitro. 61
10727280 2000

Variations for Venous Malformations, Multiple Cutaneous and Mucosal

ClinVar genetic disease variations for Venous Malformations, Multiple Cutaneous and Mucosal:

6 (show top 50) (show all 105)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TEK NM_000459.4(TEK):c.2744G>A (p.Arg915His) SNV Pathogenic 30054 rs387906745 GRCh37: 9:27212762-27212762
GRCh38: 9:27212764-27212764
2 TEK NM_000459.4(TEK):c.2690A>G (p.Tyr897Cys) SNV Pathogenic 30053 rs80338909 GRCh37: 9:27212708-27212708
GRCh38: 9:27212710-27212710
3 TEK NM_000459.4(TEK):c.2690A>C (p.Tyr897Ser) SNV Pathogenic 9294 rs80338909 GRCh37: 9:27212708-27212708
GRCh38: 9:27212710-27212710
4 TEK NM_000459.4(TEK):c.2545C>T (p.Arg849Trp) SNV Pathogenic 9293 rs80338908 GRCh37: 9:27206760-27206760
GRCh38: 9:27206762-27206762
5 TEK NM_000459.5(TEK):c.2678A>T (p.Glu893Val) SNV Likely pathogenic 917490 GRCh37: 9:27209221-27209221
GRCh38: 9:27209223-27209223
6 TEK NM_000459.5(TEK):c.365-5A>G SNV Uncertain significance 913744 GRCh37: 9:27168488-27168488
GRCh38: 9:27168490-27168490
7 TEK NM_000459.4(TEK):c.*558T>C SNV Uncertain significance 366472 rs886063829 GRCh37: 9:27229788-27229788
GRCh38: 9:27229790-27229790
8 TEK NM_000459.5(TEK):c.1885C>T (p.Leu629Phe) SNV Uncertain significance 914284 GRCh37: 9:27197573-27197573
GRCh38: 9:27197575-27197575
9 TEK NM_000459.5(TEK):c.2040T>C (p.Asn680=) SNV Uncertain significance 914781 GRCh37: 9:27202948-27202948
GRCh38: 9:27202950-27202950
10 TEK NM_000459.5(TEK):c.2125C>A (p.Gln709Lys) SNV Uncertain significance 914782 GRCh37: 9:27203033-27203033
GRCh38: 9:27203035-27203035
11 TEK NM_000459.5(TEK):c.2575+3C>T SNV Uncertain significance 976621 GRCh37: 9:27206793-27206793
GRCh38: 9:27206795-27206795
12 TEK NM_000459.5(TEK):c.2575+4A>G SNV Uncertain significance 976622 GRCh37: 9:27206794-27206794
GRCh38: 9:27206796-27206796
13 TEK NM_000459.4(TEK):c.*904T>G SNV Uncertain significance 366477 rs886063831 GRCh37: 9:27230134-27230134
GRCh38: 9:27230136-27230136
14 TEK NM_000459.4(TEK):c.2718C>G (p.Pro906=) SNV Uncertain significance 366443 rs886063824 GRCh37: 9:27212736-27212736
GRCh38: 9:27212738-27212738
15 TEK NM_000459.4(TEK):c.1834G>A (p.Val612Met) SNV Uncertain significance 366431 rs764571511 GRCh37: 9:27197522-27197522
GRCh38: 9:27197524-27197524
16 TEK NM_000459.4(TEK):c.*230T>C SNV Uncertain significance 366460 rs886063826 GRCh37: 9:27229460-27229460
GRCh38: 9:27229462-27229462
17 TEK NM_000459.4(TEK):c.1973C>A (p.Ser658Tyr) SNV Uncertain significance 366435 rs886063822 GRCh37: 9:27202881-27202881
GRCh38: 9:27202883-27202883
18 TEK NM_000459.4(TEK):c.3347T>C (p.Ile1116Thr) SNV Uncertain significance 561130 rs1564116253 GRCh37: 9:27229202-27229202
GRCh38: 9:27229204-27229204
19 TEK NM_000459.4(TEK):c.3252dup (p.Phe1085fs) Duplication Uncertain significance 632040 rs1564115375 GRCh37: 9:27228254-27228255
GRCh38: 9:27228256-27228257
20 TEK NM_000459.5(TEK):c.1087A>G (p.Ser363Gly) SNV Uncertain significance 912728 GRCh37: 9:27183513-27183513
GRCh38: 9:27183515-27183515
21 TEK NM_000459.5(TEK):c.2227G>A (p.Gly743Arg) SNV Uncertain significance 912821 GRCh37: 9:27204926-27204926
GRCh38: 9:27204928-27204928
22 TEK NM_000459.5(TEK):c.1446A>G (p.Leu482=) SNV Uncertain significance 913138 GRCh37: 9:27190645-27190645
GRCh38: 9:27190647-27190647
23 TEK NM_000459.5(TEK):c.2827C>T (p.His943Tyr) SNV Uncertain significance 913188 GRCh37: 9:27212845-27212845
GRCh38: 9:27212847-27212847
24 TEK NM_000459.5(TEK):c.3099C>T (p.Ser1033=) SNV Uncertain significance 913189 GRCh37: 9:27218811-27218811
GRCh38: 9:27218813-27218813
25 TEK NM_000459.5(TEK):c.*674G>A SNV Uncertain significance 913241 GRCh37: 9:27229904-27229904
GRCh38: 9:27229906-27229906
26 TEK NM_000459.5(TEK):c.*708G>A SNV Uncertain significance 913242 GRCh37: 9:27229938-27229938
GRCh38: 9:27229940-27229940
27 TEK NM_000459.5(TEK):c.*862G>C SNV Uncertain significance 913243 GRCh37: 9:27230092-27230092
GRCh38: 9:27230094-27230094
28 TEK NM_000459.4(TEK):c.*330A>G SNV Uncertain significance 366464 rs748110091 GRCh37: 9:27229560-27229560
GRCh38: 9:27229562-27229562
29 TEK NM_000459.4(TEK):c.*257T>A SNV Uncertain significance 366461 rs886063827 GRCh37: 9:27229487-27229487
GRCh38: 9:27229489-27229489
30 TEK NM_000459.4(TEK):c.2814C>G (p.Ser938=) SNV Uncertain significance 366444 rs886063825 GRCh37: 9:27212832-27212832
GRCh38: 9:27212834-27212834
31 TEK NM_000459.4(TEK):c.1236C>T (p.His412=) SNV Uncertain significance 366416 rs886063820 GRCh37: 9:27185536-27185536
GRCh38: 9:27185538-27185538
32 TEK NM_000459.4(TEK):c.2604C>T (p.Asp868=) SNV Uncertain significance 366442 rs886063823 GRCh37: 9:27209147-27209147
GRCh38: 9:27209149-27209149
33 TEK NM_000459.4(TEK):c.-96G>A SNV Uncertain significance 366389 rs534352362 GRCh37: 9:27109493-27109493
GRCh38: 9:27109495-27109495
34 TEK NM_000459.4(TEK):c.*788_*789del Deletion Uncertain significance 366476 rs140755654 GRCh37: 9:27230018-27230019
GRCh38: 9:27230020-27230021
35 TEK NM_000459.4(TEK):c.-354A>G SNV Uncertain significance 366386 rs886063815 GRCh37: 9:27109235-27109235
GRCh38: 9:27109237-27109237
36 TEK NM_000459.4(TEK):c.*287C>T SNV Uncertain significance 366462 rs562001960 GRCh37: 9:27229517-27229517
GRCh38: 9:27229519-27229519
37 TEK NM_000459.4(TEK):c.*684C>A SNV Uncertain significance 366474 rs886063830 GRCh37: 9:27229914-27229914
GRCh38: 9:27229916-27229916
38 TEK NM_000459.4(TEK):c.1694C>G (p.Pro565Arg) SNV Uncertain significance 366428 rs780560474 GRCh37: 9:27197382-27197382
GRCh38: 9:27197384-27197384
39 TEK NM_000459.4(TEK):c.2444T>C (p.Ile815Thr) SNV Uncertain significance 366440 rs777012163 GRCh37: 9:27206659-27206659
GRCh38: 9:27206661-27206661
40 TEK NM_000459.4(TEK):c.-326A>G SNV Uncertain significance 366387 rs147620532 GRCh37: 9:27109263-27109263
GRCh38: 9:27109265-27109265
41 TEK NM_000459.4(TEK):c.-425A>G SNV Likely benign 366385 rs149944814 GRCh37: 9:27109164-27109164
GRCh38: 9:27109166-27109166
42 TEK NM_000459.4(TEK):c.*516_*517TC[3] Microsatellite Likely benign 366467 rs139215084 GRCh37: 9:27229746-27229747
GRCh38: 9:27229748-27229749
43 TEK NM_000459.5(TEK):c.484A>T (p.Ile162Phe) SNV Likely benign 914142 GRCh37: 9:27169483-27169483
GRCh38: 9:27169485-27169485
44 TEK NM_000459.5(TEK):c.760+5G>T SNV Likely benign 914143 GRCh37: 9:27172750-27172750
GRCh38: 9:27172752-27172752
45 TEK NM_000459.5(TEK):c.267G>T (p.Lys89Asn) SNV Likely benign 913743 GRCh37: 9:27158043-27158043
GRCh38: 9:27158045-27158045
46 TEK NM_000459.5(TEK):c.776C>T (p.Thr259Met) SNV Benign 914144 GRCh37: 9:27173235-27173235
GRCh38: 9:27173237-27173237
47 TEK NM_000459.5(TEK):c.882G>C (p.Lys294Asn) SNV Benign 914145 GRCh37: 9:27173341-27173341
GRCh38: 9:27173343-27173343
48 TEK NM_000459.5(TEK):c.1199A>G (p.His400Arg) SNV Benign 914241 GRCh37: 9:27185499-27185499
GRCh38: 9:27185501-27185501
49 TEK NM_000459.4(TEK):c.1313A>G (p.Asn438Ser) SNV Benign 618424 rs189543659 GRCh37: 9:27185613-27185613
GRCh38: 9:27185615-27185615
50 TEK NM_000459.5(TEK):c.1507A>G (p.Thr503Ala) SNV Benign 914283 GRCh37: 9:27192504-27192504
GRCh38: 9:27192506-27192506

UniProtKB/Swiss-Prot genetic disease variations for Venous Malformations, Multiple Cutaneous and Mucosal:

72
# Symbol AA change Variation ID SNP ID
1 TEK p.Arg849Trp VAR_006352 rs80338908
2 TEK p.Tyr897Ser VAR_008716 rs80338909
3 TEK p.Tyr897Cys VAR_066606 rs80338909
4 TEK p.Arg915His VAR_066607 rs387906745
5 TEK p.Arg918Cys VAR_066608
6 TEK p.Val919Leu VAR_066609
7 TEK p.Ala925Ser VAR_066610
8 TEK p.Lys1100Asn VAR_066611

Expression for Venous Malformations, Multiple Cutaneous and Mucosal

Search GEO for disease gene expression data for Venous Malformations, Multiple Cutaneous and Mucosal.

Pathways for Venous Malformations, Multiple Cutaneous and Mucosal

Pathways related to Venous Malformations, Multiple Cutaneous and Mucosal according to KEGG:

36
# Name Kegg Source Accession
1 PI3K-Akt signaling pathway hsa04151
2 HIF-1 signaling pathway hsa04066

Pathways related to Venous Malformations, Multiple Cutaneous and Mucosal according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.67 TEK SYNGAP1 RASA1 KRIT1 ANGPT1
2
Show member pathways
11.47 SYNGAP1 RASA1 AGGF1
3 11.02 RASA1 KRIT1
4 10.64 TEK ANGPT1
5 9.61 TEK RASA1 ANGPT1

GO Terms for Venous Malformations, Multiple Cutaneous and Mucosal

Biological processes related to Venous Malformations, Multiple Cutaneous and Mucosal according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.85 TEK RASA1 PDCD10 ANGPT1
2 heart development GO:0007507 9.76 TEK CCM2 ACVRL1
3 in utero embryonic development GO:0001701 9.74 CCM2 ANGPT1 ACVRL1
4 MAPK cascade GO:0000165 9.73 TEK SYNGAP1 RASA1 ANGPT1
5 positive regulation of angiogenesis GO:0045766 9.69 TEK AGGF1 ACVRL1
6 negative regulation of neuron apoptotic process GO:0043524 9.67 SYNGAP1 RASA1 ANGPT1
7 negative regulation of endothelial cell proliferation GO:0001937 9.59 KRIT1 ACVRL1
8 sprouting angiogenesis GO:0002040 9.58 TEK ANGPT1
9 positive regulation of endothelial cell proliferation GO:0001938 9.58 TEK AGGF1 ACVRL1
10 blood vessel morphogenesis GO:0048514 9.56 RASA1 ACVRL1
11 negative regulation of Ras protein signal transduction GO:0046580 9.54 SYNGAP1 RASA1
12 negative regulation of endothelial cell migration GO:0010596 9.52 KRIT1 ACVRL1
13 endothelial tube morphogenesis GO:0061154 9.48 CCM2 ACVRL1
14 regulation of endothelial cell proliferation GO:0001936 9.46 ANGPT1 ACVRL1
15 negative regulation of cell adhesion GO:0007162 9.43 RASA1 ANGPT1 ACVRL1
16 glomerulus vasculature development GO:0072012 9.37 TEK ANGPT1
17 negative regulation of endothelial cell apoptotic process GO:2000352 9.33 TEK KRIT1 ANGPT1
18 Tie signaling pathway GO:0048014 9.32 TEK ANGPT1
19 vasculogenesis GO:0001570 9.26 RASA1 GLMN CCM2 AGGF1
20 angiogenesis GO:0001525 9.1 TEK PDCD10 KRIT1 ANGPT1 AGGF1 ACVRL1

Sources for Venous Malformations, Multiple Cutaneous and Mucosal

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
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