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:
Abnormality of brain morphology (HP:0012443)

Grandparent Node:
Abnormality of the vasculature (HP:0002597)

Parent Node:
Abnormal cerebral vascular morphology (HP:0100659)

..Starting node
..Dilation of Virchow-Robin spaces (HP:0012520)

Term ID:

12520

Name:

Dilation of Virchow-Robin spaces

Synonym:

Dilated cerebral perivascular spaces; Dilated Virchow-Robin spaces; Perivascular spaces

Definition:

Increased dimensions of the Virchow-Robin spaces (also known as perivascular spaces), which surround the walls of vessels as they course from the subarachnoid space through the brain parenchyma. Perivascular spaces are commonly microscopic, and not visible on conventional neuroimaging. This term refers to an increase of size of these spaces such that they are visible on neuroimaging (usually magnetic resonance imaging). The dilatations are regular cavities that always contain a patent artery.

Comments:

Reference:

HP:0012520

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal cerebral artery morphology (HP:0009145)

Abnormal cerebral vein morphology (HP:0012480)

Cerebral arteriovenous malformation (HP:0002408)

Cerebral vasculitis (HP:0005318)

Intracranial hemorrhage (HP:0002170)

Stroke (HP:0001297)

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:0012520	HP:0012520	Dilation of Virchow-Robin spaces	0	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii		46
HP:0012520	HP:0012520	Dilation of Virchow-Robin spaces	0	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome		7
HP:0012520	HP:0012520	Dilation of Virchow-Robin spaces	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0012520	HP:0012520	Dilation of Virchow-Robin spaces	0	CLCN3 CL E G H	1182	2021	OMIM:619517	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA		2
HP:0012520	HP:0012520	Dilation of Virchow-Robin spaces	0	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies		193
HP:0012520	HP:0012520	Dilation of Virchow-Robin spaces	0	DCX CL E G H	1641	2714	ORPHA:2148	Lissencephaly type 1 due to doublecortin gene mutation	HP:0040283 - Occasional	145
HP:0012520	HP:0012520	Dilation of Virchow-Robin spaces	0	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0012520	HP:0012520	Dilation of Virchow-Robin spaces	0	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0012520	HP:0012520	Dilation of Virchow-Robin spaces	0	HTRA1 CL E G H	5654	9476	OMIM:616779	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2		34
HP:0012520	HP:0012520	Dilation of Virchow-Robin spaces	0	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51		2
HP:0012520	HP:0012520	Dilation of Virchow-Robin spaces	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0012520	HP:0012520	Dilation of Virchow-Robin spaces	0	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS		1
HP:0012520	HP:0012520	Dilation of Virchow-Robin spaces	0	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome	HP:0040282 - Frequent	1
HP:0012520	HP:0012520	Dilation of Virchow-Robin spaces	0	PAFAH1B1 CL E G H	5048	8574	OMIM:607432	Lissencephaly 1		231
HP:0012520	HP:0012520	Dilation of Virchow-Robin spaces	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation	HP:0040282 - Frequent	231
HP:0012520	HP:0012520	Dilation of Virchow-Robin spaces	0	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0012520	HP:0012520	Dilation of Virchow-Robin spaces	0	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome		43
HP:0012520	HP:0012520	Dilation of Virchow-Robin spaces	0	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0012520	HP:0012520	Dilation of Virchow-Robin spaces	0	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS

Genes (16) :ALG2 ASXL2 CLCN3 COL4A1 DCX H3-3A H4C9 HTRA1 KMT5B NGLY1 ODC1 PAFAH1B1 PLXNA1 RIN2 RPL10 SIAH1

Diseases (19) :OMIM:607906 OMIM:617190 OMIM:619512 OMIM:619517 OMIM:175780 ORPHA:2148 OMIM:619720 OMIM:619951 OMIM:616779 OMIM:617788 OMIM:615273 OMIM:619075 ORPHA:544488 OMIM:607432 ORPHA:95232 OMIM:619955 OMIM:613075 OMIM:300998 OMIM:619314

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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