PedAM

Pediatric Disease Annotations & Medicines


	periventricular leukomalacia

Disease ID	592
Disease	periventricular leukomalacia
Definition	Degeneration of white matter adjacent to the CEREBRAL VENTRICLES following cerebral hypoxia or BRAIN ISCHEMIA in neonates. The condition primarily affects white matter in the perfusion zone between superficial and deep branches of the MIDDLE CEREBRAL ARTERY. Clinical manifestations include VISION DISORDERS; CEREBRAL PALSY; PARAPLEGIA; SEIZURES; and cognitive disorders. (From Adams et al., Principles of Neurology, 6th ed, p1021; Joynt, Clinical Neurology, 1997, Ch4, pp30-1)
Synonym	encephalomalacia, periventricular encephalomalacias, periventricular leucomalacia, periventricular leucomalacias, periventricular leukoencephalopathy, periventricular leukomalacia periventricular leukomalacia, periventricular leukomalacia, periventricular [disease/finding] leukomalacias, periventricular perivent leukomalacia periventricular encephalomalacia periventricular encephalomalacias periventricular leucoencephalopathy periventricular leucomalacia periventricular leucomalacia (disorder) periventricular leucomalacias periventricular leukoencephalopathy periventricular leukomalacia (disorder) periventricular leukomalacias pvl pvl - periventricular leucomalacia pvl - periventricular leukomalacia pvl leukomalacia periventricular white matter necrosis
Orphanet	ORPHANET:171676
DOID	DOID:13088
UMLS	C0023529
MeSH	D007969
SNOMED-CT	SNOMEDCT_US_2016_09_01:230769007
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:5) C0007789 \| cerebral palsy \| 5 C0014544 \| epilepsy \| 2 C0004623 \| bacterial infection \| 1 C0034345 \| pyruvate dehydrogenase deficiency \| 1 C0008495 \| chorioamnionitis \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:116) 2101 \| ESRRA \| DISEASES 6362 \| CCL18 \| DISEASES 5010 \| CLDN11 \| DISEASES 5351 \| PLOD1 \| DISEASES 5816 \| PVALB \| DISEASES 79152 \| FA2H \| DISEASES 2936 \| GSR \| DISEASES 54623 \| PAF1 \| DISEASES 57030 \| SLC17A7 \| DISEASES 2057 \| EPOR \| DISEASES 1949 \| EFNB3 \| DISEASES 8050 \| PDHX \| DISEASES 9450 \| LY86 \| DISEASES 4015 \| LOX \| DISEASES 51299 \| NRN1 \| DISEASES 1948 \| EFNB2 \| DISEASES 8195 \| MKKS \| DISEASES 2658 \| GDF2 \| DISEASES 968 \| CD68 \| DISEASES 239 \| ALOX12 \| DISEASES 2056 \| EPO \| DISEASES 2670 \| GFAP \| DISEASES 1401 \| CRP \| DISEASES 3569 \| IL6 \| DISEASES 6496 \| SIX3 \| DISEASES 2581 \| GALC \| DISEASES 81671 \| VMP1 \| DISEASES 6505 \| SLC1A1 \| DISEASES 6558 \| SLC12A2 \| DISEASES 7305 \| TYROBP \| DISEASES 5052 \| PRDX1 \| DISEASES 443 \| ASPA \| DISEASES 57084 \| SLC17A6 \| DISEASES 3553 \| IL1B \| DISEASES 645 \| BLVRB \| DISEASES 10000 \| AKT3 \| DISEASES 29899 \| GPSM2 \| DISEASES 2891 \| GRIA2 \| DISEASES 2247 \| FGF2 \| DISEASES 54504 \| CPVL \| DISEASES 793 \| CALB1 \| DISEASES 2840 \| GPR17 \| DISEASES 2495 \| FTH1 \| DISEASES 6506 \| SLC1A2 \| DISEASES 23643 \| LY96 \| DISEASES 351 \| APP \| DISEASES 4107 \| MAGEA8 \| DISEASES 8321 \| FZD1 \| DISEASES 6285 \| S100B \| DISEASES 2905 \| GRIN2C \| DISEASES 246 \| ALOX15 \| DISEASES 6006 \| RHCE \| DISEASES 6853 \| SYN1 \| DISEASES 4108 \| MAGEA9 \| DISEASES 7001 \| PRDX2 \| DISEASES 1808 \| DPYSL2 \| DISEASES 836 \| CASP3 \| DISEASES 4744 \| NEFH \| DISEASES 64388 \| GREM2 \| DISEASES 124590 \| USH1G \| DISEASES 4661 \| MYT1 \| DISEASES 10215 \| OLIG2 \| DISEASES 6007 \| RHD \| DISEASES 9547 \| CXCL14 \| DISEASES 1641 \| DCX \| DISEASES 554 \| AVPR2 \| DISEASES 7360 \| UGP2 \| DISEASES 5348 \| FXYD1 \| DISEASES 124454 \| EARS2 \| DISEASES 26503 \| SLC17A5 \| DISEASES 4111 \| MAGEA12 \| DISEASES 5887 \| RAD23B \| DISEASES 871 \| SERPINH1 \| DISEASES 2050 \| EPHB4 \| DISEASES 26509 \| MYOF \| DISEASES 6663 \| SOX10 \| DISEASES 26047 \| CNTNAP2 \| DISEASES 116443 \| GRIN3A \| DISEASES 1270 \| CNTF \| DISEASES 5362 \| PLXNA2 \| DISEASES 7432 \| VIP \| DISEASES 4688 \| NCF2 \| DISEASES 10763 \| NES \| DISEASES 84504 \| NKX6-2 \| DISEASES 51750 \| RTEL1 \| DISEASES 29944 \| PNMA3 \| DISEASES 6441 \| SFTPD \| DISEASES 27286 \| SRPX2 \| DISEASES 54209 \| TREM2 \| DISEASES 2268 \| FGR \| DISEASES 1896 \| EDA \| DISEASES 1282 \| COL4A1 \| DISEASES 3055 \| HCK \| DISEASES 199 \| AIF1 \| DISEASES 57380 \| MRS2 \| DISEASES 1536 \| CYBB \| DISEASES 444 \| ASPH \| DISEASES 5160 \| PDHA1 \| DISEASES 3704 \| ITPA \| DISEASES 2103 \| ESRRB \| DISEASES 116448 \| OLIG1 \| DISEASES 4155 \| MBP \| DISEASES 348801 \| LNP1 \| DISEASES 2617 \| GARS \| DISEASES 4099 \| MAG \| DISEASES 5803 \| PTPRZ1 \| DISEASES 5091 \| PC \| DISEASES 23077 \| MYCBP2 \| DISEASES 2160 \| F11 \| DISEASES 23066 \| CAND2 \| DISEASES 4802 \| NFYC \| DISEASES 7124 \| TNF \| DISEASES 2668 \| GDNF \| DISEASES 627 \| BDNF \| DISEASES 57451 \| TENM2 \| DISEASES 79104 \| MEG8 \| DISEASES
Locus	(Waiting for update.)

Disease ID	592
Disease	periventricular leukomalacia
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:9) HP:0100021 \| Cerebral palsy \| 5 HP:0030746 \| Intraventricular hemorrhage \| 2 HP:0001518 \| Small for gestational age \| 2 HP:0000505 \| Poor vision \| 2 HP:0100806 \| Sepsis \| 1 HP:0100543 \| Cognitive deficits \| 1 HP:0001297 \| Cerebral vascular events \| 1 HP:0100704 \| Cortical visual impairment \| 1 HP:0002171 \| Cerebral gliosis \| 1

Disease ID	592
Disease	periventricular leukomalacia
Manually Symptom	UMLS \| Name(Total Manually Symptoms:6) C0497552 \| nervous system abnormalities C0392549 \| cerebral palsy C0240059 \| intraventricular hemorrhage C0221165 \| diplegia C0023882 \| spastic diplegia C0014544 \| epilepsy
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:3) C0007789 \| cerebral palsy \| 5 C0240059 \| intraventricular hemorrhage \| 2 C0014544 \| epilepsy \| 2

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:0)
(Waiting for update.)

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:2)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0023529	betamethasone	D001623	378-44-9	leukomalacia, periventricular	MESH:D007969	therapeutic	12369299
C0023529	indomethacin	D007213	53-86-1	leukomalacia, periventricular	MESH:D007969	marker/mechanism	17980183

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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