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:
Gray matter heterotopia (HP:0002282)

Parent Node:
obsolete Gray matter heterotopias (HP:0002281)

..Starting node
..Periventricular heterotopia (HP:0007165)

Term ID:

7165

Name:

Periventricular heterotopia

Synonym:

Periventricular gray matter heterotopia; Periventricular grey matter heterotopia; Periventricular neuronal heterotopia; Subependymal gray matter heterotopia; Subependymal grey matter heterotopia; Subependymal neuronal heterotopia

Definition:

A form of gray matter heterotopia were the mislocalized gray matter is typically located periventricularly, also sometimes called subependymal heterotopia. Periventricular means beside the ventricles. This is by far the most common location for heterotopia. Subependymal heterotopia present in a wide array of variations. There can be a small single node or a large number of nodes, can exist on either or both sides of the brain at any point along the higher ventricle margins, can be small or large, single or multiple, and can form a small node or a large wavy or curved mass.

Comments:

Reference:

HP:0007165

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0007165	HP:0007165	Periventricular heterotopia	0	ADGRL1 CL E G H	22859	20973	OMIM:620065
HP:0007165	HP:0007165	Periventricular heterotopia	0	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome	HP:0040282 - Frequent	102
HP:0007165	HP:0007165	Periventricular heterotopia	0	APC2 CL E G H	10297	24036	OMIM:618677	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM10		1
HP:0007165	HP:0007165	Periventricular heterotopia	0	ARF1 CL E G H	375	652	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent
HP:0007165	HP:0007165	Periventricular heterotopia	0	ARF1 CL E G H	375	652	OMIM:618185	Periventricular nodular heterotopia 8
HP:0007165	HP:0007165	Periventricular heterotopia	0	ARFGEF2 CL E G H	10564	15853	OMIM:608097	Periventricular heterotopia with microcephaly, autosomal recessive		179
HP:0007165	HP:0007165	Periventricular heterotopia	0	ARFGEF2 CL E G H	10564	15853	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent	179
HP:0007165	HP:0007165	Periventricular heterotopia	0	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14	HP:0040282 - Frequent	27
HP:0007165	HP:0007165	Periventricular heterotopia	0	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.	27
HP:0007165	HP:0007165	Periventricular heterotopia	0	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0007165	HP:0007165	Periventricular heterotopia	0	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0007165	HP:0007165	Periventricular heterotopia	0	CPLX1 CL E G H	10815	2309	ORPHA:352582	Familial infantile myoclonic epilepsy		1
HP:0007165	HP:0007165	Periventricular heterotopia	0	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis	.	149
HP:0007165	HP:0007165	Periventricular heterotopia	0	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0007165	HP:0007165	Periventricular heterotopia	0	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1		27
HP:0007165	HP:0007165	Periventricular heterotopia	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0007165	HP:0007165	Periventricular heterotopia	0	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0007165	HP:0007165	Periventricular heterotopia	0	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome	HP:0040281 - Very frequent	36
HP:0007165	HP:0007165	Periventricular heterotopia	0	ERMARD CL E G H	55780	21056	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent	36
HP:0007165	HP:0007165	Periventricular heterotopia	0	ERMARD CL E G H	55780	21056	OMIM:615544	Periventricular nodular heterotopia 6		36
HP:0007165	HP:0007165	Periventricular heterotopia	0	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2		114
HP:0007165	HP:0007165	Periventricular heterotopia	0	FLNA CL E G H	2316	3754	ORPHA:555877	FLNA-related X-linked myxomatous valvular dysplasia		493
HP:0007165	HP:0007165	Periventricular heterotopia	0	FLNA CL E G H	2316	3754	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent	493
HP:0007165	HP:0007165	Periventricular heterotopia	0	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome	.	30
HP:0007165	HP:0007165	Periventricular heterotopia	0	INTS8 CL E G H	55656	26048	OMIM:618572	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY; NEDCHS		2
HP:0007165	HP:0007165	Periventricular heterotopia	0	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome	.	141
HP:0007165	HP:0007165	Periventricular heterotopia	0	KAT8 CL E G H	84148	17933	OMIM:618974	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0007165	HP:0007165	Periventricular heterotopia	0	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly		10
HP:0007165	HP:0007165	Periventricular heterotopia	0	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG	HP:0040284 - Very rare	93
HP:0007165	HP:0007165	Periventricular heterotopia	0	MAP1B CL E G H	4131	6836	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent
HP:0007165	HP:0007165	Periventricular heterotopia	0	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0007165	HP:0007165	Periventricular heterotopia	0	NEDD4L CL E G H	23327	7728	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent	30
HP:0007165	HP:0007165	Periventricular heterotopia	0	NEDD4L CL E G H	23327	7728	OMIM:617201	Periventricular nodular heterotopia 7		30
HP:0007165	HP:0007165	Periventricular heterotopia	0	NRCAM CL E G H	4897	7994	OMIM:619833			2
HP:0007165	HP:0007165	Periventricular heterotopia	0	PDHB CL E G H	5162	8808	ORPHA:255138	Pyruvate dehydrogenase E1-beta deficiency	HP:0040283 - Occasional	37
HP:0007165	HP:0007165	Periventricular heterotopia	0	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0007165	HP:0007165	Periventricular heterotopia	0	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0007165	HP:0007165	Periventricular heterotopia	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional	113
HP:0007165	HP:0007165	Periventricular heterotopia	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0007165	HP:0007165	Periventricular heterotopia	0	TBC1D24 CL E G H	57465	29203	ORPHA:352582	Familial infantile myoclonic epilepsy		271
HP:0007165	HP:0007165	Periventricular heterotopia	0	TMTC3 CL E G H	160418	26899	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent	5
HP:0007165	HP:0007165	Periventricular heterotopia	0	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0007165	HP:0007165	Periventricular heterotopia	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040284 - Very rare	362
HP:0007165	HP:0007165	Periventricular heterotopia	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040284 - Very rare	362
HP:0007165	HP:0007165	Periventricular heterotopia	0	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0007165	HP:0007165	Periventricular heterotopia	0	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64		3
HP:0007165	HP:0007165	Periventricular heterotopia	0	ZSWIM6 CL E G H	57688	29316	OMIM:603671	Acromelic frontonasal dysostosis		5
HP:0007165	HP:0032389	Periventricular laminar heterotopia	1	CL E G H
HP:0007165	HP:0032388	Periventricular nodular heterotopia	1	ADGRL1 CL E G H	22859	20973	OMIM:620065
HP:0007165	HP:0032390	Periventricular ribbonlike heterotopia	1	APC2 CL E G H	10297	24036	OMIM:618677	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM10		1
HP:0007165	HP:0032388	Periventricular nodular heterotopia	1	ARF1 CL E G H	375	652	OMIM:618185	Periventricular nodular heterotopia 8	.
HP:0007165	HP:0032388	Periventricular nodular heterotopia	1	ARFGEF2 CL E G H	10564	15853	OMIM:608097	Periventricular heterotopia with microcephaly, autosomal recessive	.	179
HP:0007165	HP:0032388	Periventricular nodular heterotopia	1	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0007165	HP:0032388	Periventricular nodular heterotopia	1	CPLX1 CL E G H	10815	2309	ORPHA:352582	Familial infantile myoclonic epilepsy	HP:0040283 - Occasional	1
HP:0007165	HP:0032388	Periventricular nodular heterotopia	1	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1	.	27
HP:0007165	HP:0032388	Periventricular nodular heterotopia	1	ERMARD CL E G H	55780	21056	OMIM:615544	Periventricular nodular heterotopia 6	.	36
HP:0007165	HP:0032388	Periventricular nodular heterotopia	1	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2	.	114
HP:0007165	HP:0032388	Periventricular nodular heterotopia	1	FLNA CL E G H	2316	3754	ORPHA:555877	FLNA-related X-linked myxomatous valvular dysplasia		493
HP:0007165	HP:0032388	Periventricular nodular heterotopia	1	INTS8 CL E G H	55656	26048	OMIM:618572	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY; NEDCHS		2
HP:0007165	HP:0032388	Periventricular nodular heterotopia	1	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0007165	HP:0032388	Periventricular nodular heterotopia	1	NEDD4L CL E G H	23327	7728	OMIM:617201	Periventricular nodular heterotopia 7	.	30
HP:0007165	HP:0032388	Periventricular nodular heterotopia	1	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0007165	HP:0032388	Periventricular nodular heterotopia	1	TBC1D24 CL E G H	57465	29203	ORPHA:352582	Familial infantile myoclonic epilepsy	HP:0040283 - Occasional	271
HP:0007165	HP:0032388	Periventricular nodular heterotopia	1	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0007165	HP:0032388	Periventricular nodular heterotopia	1	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0007165	HP:0032388	Periventricular nodular heterotopia	1	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64		3
HP:0007165	HP:0032388	Periventricular nodular heterotopia	1	ZSWIM6 CL E G H	57688	29316	OMIM:603671	Acromelic frontonasal dysostosis	.	5

Genes (38) :ADGRL1 ANKRD11 APC2 ARF1 ARFGEF2 C2CD3 CDH2 CPLANE1 CPLX1 CSF1R CSGALNACT1 DCHS1 DHCR7 DHX16 ERMARD FAT4 FLNA FMR1 INTS8 KAT6B KAT8 KATNB1 MAN1B1 MAP1B NEDD4L NRCAM PDHB PLCH1 PRORP RTTN SLC25A24 TBC1D24 TMTC3 VPS35L ZEB2 ZMIZ1 ZNF292 ZSWIM6

Diseases (40) :OMIM:620065 ORPHA:261250 OMIM:618677 ORPHA:98892 OMIM:618185 OMIM:608097 ORPHA:434179 OMIM:615948 OMIM:618929 OMIM:277170 ORPHA:352582 OMIM:618476 OMIM:618870 OMIM:601390 OMIM:270400 OMIM:618733 ORPHA:75857 OMIM:615544 OMIM:615546 ORPHA:555877 OMIM:300624 OMIM:618572 OMIM:606170 OMIM:618974 OMIM:616212 ORPHA:397941 OMIM:618918 OMIM:617201 OMIM:619833 ORPHA:255138 OMIM:619895 OMIM:619737 ORPHA:468631 OMIM:612289 OMIM:619135 ORPHA:261552 ORPHA:261537 OMIM:618659 OMIM:619188 OMIM:603671

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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