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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Arteriovenous Malformations (D001165)
..Starting node ..Venous Malformations, Multiple Cutaneous and Mucosal (C563977)
Child Nodes:
Sister Nodes:
..Arteriovenous Fistula (D001164) 3
..Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth (C567763)
..Capillary Malformation-Arteriovenous Malformation (C564254)
..Intracranial Arteriovenous Malformations (D002538) 3
..Spinal Arterial Venous Malformations with Cutaneous Hemangiomas (C566282)
..Venous Malformations, Multiple Cutaneous and Mucosal (C563977)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

11556

Name:

Venous Malformations, Multiple Cutaneous and Mucosal

Definition:

Alternative IDs:

OMIM:600195

ParentIDs:

MESH:D001165

TreeNumbers:

C14.240.850.750/C563977 |C14.907.150/C563977 |C16.131.240.850.750/C563977

Synonyms:

Mucocutaneous Venous Malformations |Multiple Cutaneous and Mucosal Venous Malformations |VMCM |Vmcm1

Slim Mappings:

Cardiovascular disease|Congenital abnormality

Reference:

MedGen: C563977
MeSH: C563977
OMIM: 600195;

Genes: TEK;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000153	Abnormality of the mouth
3	HP:0002584	Intestinal bleeding
4	HP:0012721	Venous malformation

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000459.4(TEK):c.2545C>T (p.Arg849Trp)	7010	TEK	Pathogenic	80338908	RCV000009876;	N	MedGen:C1838437,OMIM:600195,ORPHA:2451	9	27206760	27206760	NM_000459.4:c.2545C>T	NP_000450.2:p.Arg849Trp	NC_000009.11:g.27206760C>T	OMIM Allelic Variant:600221.0001	C1838437 600195 Multiple Cutaneous and Mucosal Venous Malformations
NM_000459.4(TEK):c.2690A>C (p.Tyr897Ser)	7010	TEK	Pathogenic	80338909	RCV000009877;	N	MedGen:C1838437,OMIM:600195,ORPHA:2451	9	27212708	27212708	NM_000459.4:c.2690A>C	NP_000450.2:p.Tyr897Ser	NC_000009.11:g.27212708A>C,NC_000009.11:g.27212708A>G	OMIM Allelic Variant:600221.0002	C1838437 600195 Multiple Cutaneous and Mucosal Venous Malformations
NM_000459.4(TEK):c.2690A>G (p.Tyr897Cys)	7010	TEK	Pathogenic	80338909	RCV000022955;	N	MedGen:C1838437,OMIM:600195,ORPHA:2451	9	27212708	27212708	NM_000459.4:c.2690A>G	NP_000450.2:p.Tyr897Cys	NC_000009.11:g.27212708A>C,NC_000009.11:g.27212708A>G	OMIM Allelic Variant:600221.0003	C1838437 600195 Multiple Cutaneous and Mucosal Venous Malformations
NM_000459.4(TEK):c.2744G>A (p.Arg915His)	7010	TEK	Pathogenic	387906745	RCV000022956;	N	MedGen:C1838437,OMIM:600195,ORPHA:2451	9	27212762	27212762	NM_000459.4:c.2744G>A	NP_000450.2:p.Arg915His	NC_000009.11:g.27212762G>A	OMIM Allelic Variant:600221.0004	C1838437 600195 Multiple Cutaneous and Mucosal Venous Malformations