Human Phenotype Ontology

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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

Grandparent Node:
Abnormal cerebral white matter morphology (HP:0002500)

Parent Node:
Hyperintensity of cerebral white matter on MRI (HP:0030890)

..Starting node
..Periventricular white matter hyperintensities (HP:0030891)

Term ID:

30891

Name:

Periventricular white matter hyperintensities

Synonym:

PVWMH

Definition:

Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles.

Comments:

Reference:

HP:0030891

Genes and Diseases:

Child Nodes:

........

Subtentorial periventricular white matter hyperdensity (HP:0025192)

........

Punctate periventricular T2 hyperintense foci (HP:0030081)

Sister Nodes:

Confluent hyperintensity of cerebral white matter on MRI (HP:0040330)

Deep cerebral white matter hyperintensities (HP:0030892)

Focal hyperintensity of cerebral white matter on MRI (HP:0040328)

Multifocal hyperintensity of cerebral white matter on MRI (HP:0040329)

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:0030891	HP:0030891	Periventricular white matter hyperintensities	0	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS		254
HP:0030891	HP:0030891	Periventricular white matter hyperintensities	0	ABHD16A CL E G H	7920	13921	OMIM:619735	SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0030891	HP:0030891	Periventricular white matter hyperintensities	0	ACTA2 CL E G H	59	130	OMIM:613834	Multisystemic smooth muscle dysfunction syndrome		94
HP:0030891	HP:0030891	Periventricular white matter hyperintensities	0	ACTL6B CL E G H	51412	160	OMIM:618468	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE76		2
HP:0030891	HP:0030891	Periventricular white matter hyperintensities	0	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form		253
HP:0030891	HP:0030891	Periventricular white matter hyperintensities	0	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form		253
HP:0030891	HP:0030891	Periventricular white matter hyperintensities	0	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form		253
HP:0030891	HP:0030891	Periventricular white matter hyperintensities	0	CLN5 CL E G H	1203	2076	ORPHA:228360	CLN5 disease	HP:0040282 - Frequent	141
HP:0030891	HP:0030891	Periventricular white matter hyperintensities	0	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2		1
HP:0030891	HP:0030891	Periventricular white matter hyperintensities	0	CNKSR2 CL E G H	22866	19701	OMIM:301008	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG		18
HP:0030891	HP:0030891	Periventricular white matter hyperintensities	0	CNP CL E G H	1267	2158	OMIM:619071	LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0030891	HP:0030891	Periventricular white matter hyperintensities	0	DDHD2 CL E G H	23259	29106	ORPHA:320380	Autosomal recessive spastic paraplegia type 54	HP:0040282 - Frequent	29
HP:0030891	HP:0030891	Periventricular white matter hyperintensities	0	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive		29
HP:0030891	HP:0030891	Periventricular white matter hyperintensities	0	GM2A CL E G H	2760	4367	ORPHA:309246	GM2 gangliosidosis, AB variant		69
HP:0030891	HP:0030891	Periventricular white matter hyperintensities	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0030891	HP:0030891	Periventricular white matter hyperintensities	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040283 - Occasional	101
HP:0030891	HP:0030891	Periventricular white matter hyperintensities	0	NEUROD2 CL E G H	4761	7763	OMIM:618374	Epileptic encephalopathy, early infantile, 72
HP:0030891	HP:0030891	Periventricular white matter hyperintensities	0	PAK1 CL E G H	5058	8590	OMIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0030891	HP:0030891	Periventricular white matter hyperintensities	0	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0030891	HP:0030891	Periventricular white matter hyperintensities	0	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form		81
HP:0030891	HP:0030891	Periventricular white matter hyperintensities	0	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form		81
HP:0030891	HP:0030891	Periventricular white matter hyperintensities	0	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form		81
HP:0030891	HP:0030891	Periventricular white matter hyperintensities	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0030891	HP:0030891	Periventricular white matter hyperintensities	0	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0030891	HP:0030891	Periventricular white matter hyperintensities	0	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0030891	HP:0030891	Periventricular white matter hyperintensities	0	STRADA CL E G H	92335	30172	ORPHA:500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome	HP:0040282 - Frequent	6
HP:0030891	HP:0030891	Periventricular white matter hyperintensities	0	TMEM222 CL E G H	84065	25363	OMIM:619470	NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0030891	HP:0025192	Subtentorial periventricular white matter hyperdensity	1	CL E G H
HP:0030891	HP:0030081	Punctate periventricular T2 hyperintense foci	1	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040282 - Frequent	253
HP:0030891	HP:0030081	Punctate periventricular T2 hyperintense foci	1	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040282 - Frequent	253
HP:0030891	HP:0030081	Punctate periventricular T2 hyperintense foci	1	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040282 - Frequent	253
HP:0030891	HP:0030081	Punctate periventricular T2 hyperintense foci	1	CNP CL E G H	1267	2158	OMIM:619071	LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0030891	HP:0030081	Punctate periventricular T2 hyperintense foci	1	GM2A CL E G H	2760	4367	ORPHA:309246	GM2 gangliosidosis, AB variant	HP:0040283 - Occasional	69
HP:0030891	HP:0030081	Punctate periventricular T2 hyperintense foci	1	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040282 - Frequent	81
HP:0030891	HP:0030081	Punctate periventricular T2 hyperintense foci	1	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040282 - Frequent	81
HP:0030891	HP:0030081	Punctate periventricular T2 hyperintense foci	1	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040282 - Frequent	81

Genes (22) :ABCC9 ABHD16A ACTA2 ACTL6B ARSA CLN5 CNBP CNKSR2 CNP DDHD2 GM2A GNB2 MMACHC NEUROD2 PAK1 PRORP PSAP RAB3GAP2 RPL10 SELENOI STRADA TMEM222

Diseases (24) :OMIM:619719 OMIM:619735 OMIM:613834 OMIM:618468 ORPHA:309271 ORPHA:309263 ORPHA:309256 ORPHA:228360 OMIM:602668 OMIM:301008 OMIM:619071 ORPHA:320380 OMIM:615033 ORPHA:309246 OMIM:619503 ORPHA:79282 OMIM:618374 OMIM:618158 OMIM:619737 OMIM:212720 OMIM:300998 OMIM:618768 ORPHA:500533 OMIM:619470

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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