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)

Grandparent Node:
Leukoencephalopathy (HP:0002352)

Parent Node:
Abnormal periventricular white matter morphology (HP:0002518)

..Starting node
..Periventricular leukomalacia (HP:0006970)

Term ID:

6970

Name:

Periventricular leukomalacia

Synonym:

PVL

Definition:

Periventricular leukomalacia is characterized by diffuse injury of deep cerebral white matter, accompanied in its most severe form by focal necrosis. The neuropathologic hallmarks of PVL are microglial activation and focal and diffuse periventricular depletion of premyelinating oligodendroglia.

Comments:

Reference:

HP:0006970

Genes and Diseases:

Child Nodes:

Sister Nodes:

Periventricular cysts (HP:0007109)

Punctate periventricular T2 hyperintense foci (HP:0030081)

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:0006970	HP:0006970	Periventricular leukomalacia	0	AARS2 CL E G H	57505	21022	OMIM:615889	Leukoencephalopathy, progressive, with ovarian failure	.	143
HP:0006970	HP:0006970	Periventricular leukomalacia	0	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	147
HP:0006970	HP:0006970	Periventricular leukomalacia	0	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1	.	147
HP:0006970	HP:0006970	Periventricular leukomalacia	0	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6		25
HP:0006970	HP:0006970	Periventricular leukomalacia	0	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040283 - Occasional	7
HP:0006970	HP:0006970	Periventricular leukomalacia	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0006970	HP:0006970	Periventricular leukomalacia	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		8
HP:0006970	HP:0006970	Periventricular leukomalacia	0	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome	HP:0040283 - Occasional	45
HP:0006970	HP:0006970	Periventricular leukomalacia	0	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy		518
HP:0006970	HP:0006970	Periventricular leukomalacia	0	DDHD2 CL E G H	23259	29106	ORPHA:320380	Autosomal recessive spastic paraplegia type 54	HP:0040283 - Occasional	29
HP:0006970	HP:0006970	Periventricular leukomalacia	0	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	9
HP:0006970	HP:0006970	Periventricular leukomalacia	0	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	18
HP:0006970	HP:0006970	Periventricular leukomalacia	0	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0006970	HP:0006970	Periventricular leukomalacia	0	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	4
HP:0006970	HP:0006970	Periventricular leukomalacia	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	106
HP:0006970	HP:0006970	Periventricular leukomalacia	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	54
HP:0006970	HP:0006970	Periventricular leukomalacia	0	FCSK CL E G H	197258	29500	OMIM:618324	Congenital disorder of glycosylation with defective fucosylation 2
HP:0006970	HP:0006970	Periventricular leukomalacia	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	2
HP:0006970	HP:0006970	Periventricular leukomalacia	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0006970	HP:0006970	Periventricular leukomalacia	0	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA		11
HP:0006970	HP:0006970	Periventricular leukomalacia	0	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional	8
HP:0006970	HP:0006970	Periventricular leukomalacia	0	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040283 - Occasional	8
HP:0006970	HP:0006970	Periventricular leukomalacia	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	9
HP:0006970	HP:0006970	Periventricular leukomalacia	0	NDUFC2 CL E G H	4718	7706	OMIM:619170	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0006970	HP:0006970	Periventricular leukomalacia	0	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	452
HP:0006970	HP:0006970	Periventricular leukomalacia	0	NRCAM CL E G H	4897	7994	OMIM:619833			2
HP:0006970	HP:0006970	Periventricular leukomalacia	0	NRROS CL E G H	375387	24613	OMIM:618875	SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS; SENEBAC		1
HP:0006970	HP:0006970	Periventricular leukomalacia	0	OGDHL CL E G H	55753	25590	OMIM:619701	YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN		3
HP:0006970	HP:0006970	Periventricular leukomalacia	0	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome		214
HP:0006970	HP:0006970	Periventricular leukomalacia	0	PC CL E G H	5091	8636	OMIM:266150	Pyruvate carboxylase deficiency	.	118
HP:0006970	HP:0006970	Periventricular leukomalacia	0	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional	88
HP:0006970	HP:0006970	Periventricular leukomalacia	0	PDHB CL E G H	5162	8808	ORPHA:255138	Pyruvate dehydrogenase E1-beta deficiency	HP:0040283 - Occasional	37
HP:0006970	HP:0006970	Periventricular leukomalacia	0	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0006970	HP:0006970	Periventricular leukomalacia	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0006970	HP:0006970	Periventricular leukomalacia	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional	19
HP:0006970	HP:0006970	Periventricular leukomalacia	0	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	3
HP:0006970	HP:0006970	Periventricular leukomalacia	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0006970	HP:0006970	Periventricular leukomalacia	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0006970	HP:0006970	Periventricular leukomalacia	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0006970	HP:0006970	Periventricular leukomalacia	0	SPATA5L1 CL E G H	79029	28762	OMIM:619616	NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0006970	HP:0006970	Periventricular leukomalacia	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0006970	HP:0006970	Periventricular leukomalacia	0	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3		13
HP:0006970	HP:0006970	Periventricular leukomalacia	0	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0006970	HP:0006970	Periventricular leukomalacia	0	TPRKB CL E G H	51002	24259	OMIM:617731	Galloway-Mowat syndrome 5
HP:0006970	HP:0006970	Periventricular leukomalacia	0	TRMT1 CL E G H	55621	25980	OMIM:618302	Intellectual developmental disorder, autosomal recessive 68	HP:0040284 - Very rare	1
HP:0006970	HP:0006970	Periventricular leukomalacia	0	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome	HP:0040283 - Occasional	2

Genes (44) :AARS2 ARHGAP31 ARID2 BRF1 CARS1 CDK13 CLCN4 CNTNAP2 DDHD2 DLL4 DOCK6 EDEM3 EOGT ERCC2 ERCC3 FCSK GTF2E2 GTF2H5 HK1 LONP1 MORC2 MPLKIP NDUFC2 NOTCH1 NRCAM NRROS OGDHL OPA1 PC PDHA1 PDHB PPFIBP1 PRR12 PUF60 RBPJ RNF113A SON SPATA5L1 TARS1 TBCK TET3 TPRKB TRMT1 USP7

Diseases (33) :OMIM:615889 ORPHA:974 OMIM:100300 OMIM:617808 ORPHA:444072 ORPHA:33364 OMIM:617360 ORPHA:485350 ORPHA:163681 ORPHA:320380 OMIM:619493 OMIM:618324 OMIM:618547 ORPHA:79243 ORPHA:466768 OMIM:619170 OMIM:619833 OMIM:618875 OMIM:619701 OMIM:210000 OMIM:266150 ORPHA:255138 OMIM:620024 OMIM:619539 ORPHA:508498 ORPHA:500150 OMIM:617140 OMIM:619616 OMIM:616900 OMIM:618798 OMIM:617731 OMIM:618302 ORPHA:500055

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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