Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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

Grandparent Node:
Abnormal vascular morphology (HP:0025015)

Parent Node:
Abnormal venous morphology (HP:0002624)

..Starting node
..Venous malformation (HP:0012721)

Term ID:

12721

Name:

Venous malformation

Synonym:

Venous malformations

Definition:

A vascular malformation resulting from a developmental error of venous tissue composed of dysmorphic channels lined by flattened endothelium and exhibiting slow turnover. A venous malformation may present as a blue patch on the skin ranging to a soft blue mass. Venous malformations are easily compressible and usually swell in thewhen venous pressure increases (e.g., when held in a dependent position or when a child cries). They may be relatively localized or quite extensive within an anatomic region.

Comments:

Reference:

HP:0012721

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal facial vein morphology (HP:3000043)

Abnormal inferior thyroid vein morphology (HP:3000059)

Abnormal jugular vein morphology (HP:3000042)

Abnormal vena cava morphology (HP:0005345)

Arteriovenous fistulas of celiac and mesenteric vessels (HP:0002642)

Prominent superficial veins (HP:0001015)

Venous insufficiency (HP:0005293)

Venous stenosis (HP:0025491)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012721	HP:0012721	Venous malformation	0	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic	.	54
HP:0012721	HP:0012721	Venous malformation	0	ALX4 CL E G H	60529	450	ORPHA:60015	Enlarged parietal foramina	HP:0040283 - Occasional	132
HP:0012721	HP:0012721	Venous malformation	0	CCM2 CL E G H	83605	21708	ORPHA:221061	Familial cerebral cavernous malformation	HP:0040283 - Occasional	37
HP:0012721	HP:0012721	Venous malformation	0	GLMN CL E G H	11146	14373	ORPHA:83454	Glomuvenous malformation	HP:0040281 - Very frequent	37
HP:0012721	HP:0012721	Venous malformation	0	KRIT1 CL E G H	889	1573	ORPHA:221061	Familial cerebral cavernous malformation	HP:0040283 - Occasional	92
HP:0012721	HP:0012721	Venous malformation	0	MSX2 CL E G H	4488	7392	ORPHA:60015	Enlarged parietal foramina	HP:0040283 - Occasional	45
HP:0012721	HP:0012721	Venous malformation	0	PDCD10 CL E G H	11235	8761	ORPHA:221061	Familial cerebral cavernous malformation	HP:0040283 - Occasional	21
HP:0012721	HP:0012721	Venous malformation	0	PIK3CA CL E G H	5290	8975	OMIM:613089	Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth	.	162
HP:0012721	HP:0012721	Venous malformation	0	PIK3CA CL E G H	5290	8975	OMIM:612918	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	.	162
HP:0012721	HP:0012721	Venous malformation	0	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome	HP:0040282 - Frequent	88
HP:0012721	HP:0012721	Venous malformation	0	TEK CL E G H	7010	11724	OMIM:600195	Venous malformations, multiple cutaneous and mucosal	.	78

Genes (10) :AKT1 ALX4 CCM2 GLMN KRIT1 MSX2 PDCD10 PIK3CA RASA1 TEK

Diseases (8) :OMIM:176920 ORPHA:60015 ORPHA:221061 ORPHA:83454 OMIM:613089 OMIM:612918 ORPHA:90307 OMIM:600195

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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