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	periventricular leukomalacia

Disease ID	1271
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 C0008495 \| chorioamnionitis \| 1 C0034345 \| pyruvate dehydrogenase deficiency \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:56) 199 \| AIF1 \| 1.517 \| DISEASES 444 \| ASPH \| 1.442 \| DISEASES 554 \| AVPR2 \| 2.787 \| DISEASES 627 \| BDNF \| 1.388 \| DISEASES 23066 \| CAND2 \| 1.779 \| DISEASES 1270 \| CNTF \| 1.727 \| DISEASES 26047 \| CNTNAP2 \| 1.046 \| DISEASES 1282 \| COL4A1 \| 1.339 \| DISEASES 9547 \| CXCL14 \| 1.237 \| DISEASES 1536 \| CYBB \| 1.896 \| DISEASES 1641 \| DCX \| 1.676 \| DISEASES 124454 \| EARS2 \| 3.347 \| DISEASES 1896 \| EDA \| 1.414 \| DISEASES 2050 \| EPHB4 \| 1.353 \| DISEASES 2103 \| ESRRB \| 1.9 \| DISEASES 2160 \| F11 \| 1.178 \| DISEASES 2268 \| FGR \| 1.454 \| DISEASES 5348 \| FXYD1 \| 2.403 \| DISEASES 2617 \| GARS \| 1.805 \| DISEASES 2668 \| GDNF \| 2.15 \| DISEASES 116443 \| GRIN3A \| 2.387 \| DISEASES 3055 \| HCK \| 1.016 \| DISEASES 3704 \| ITPA \| 2.18 \| DISEASES 348801 \| LNP1 \| 2.562 \| DISEASES 4099 \| MAG \| 1.673 \| DISEASES 4111 \| MAGEA12 \| 2.256 \| DISEASES 4155 \| MBP \| 4.486 \| DISEASES 79104 \| MEG8 \| 1.178 \| DISEASES 57380 \| MRS2 \| 1.737 \| DISEASES 23077 \| MYCBP2 \| 1.721 \| DISEASES 26509 \| MYOF \| 2.09 \| DISEASES 4661 \| MYT1 \| 3.045 \| DISEASES 4688 \| NCF2 \| 2.319 \| DISEASES 10763 \| NES \| 2.435 \| DISEASES 4802 \| NFYC \| 2.49 \| DISEASES 84504 \| NKX6-2 \| 1.249 \| DISEASES 116448 \| OLIG1 \| 2.138 \| DISEASES 10215 \| OLIG2 \| 2.573 \| DISEASES 5091 \| PC \| 2.839 \| DISEASES 5160 \| PDHA1 \| 1.687 \| DISEASES 5362 \| PLXNA2 \| 2.119 \| DISEASES 29944 \| PNMA3 \| 2.23 \| DISEASES 5803 \| PTPRZ1 \| 1.826 \| DISEASES 5887 \| RAD23B \| 1.633 \| DISEASES 6007 \| RHD \| 1.047 \| DISEASES 51750 \| RTEL1 \| 2.283 \| DISEASES 871 \| SERPINH1 \| 4.986 \| DISEASES 6441 \| SFTPD \| 1.905 \| DISEASES 26503 \| SLC17A5 \| 1.094 \| DISEASES 6663 \| SOX10 \| 1.768 \| DISEASES 27286 \| SRPX2 \| 2.271 \| DISEASES 57451 \| TENM2 \| 2.229 \| DISEASES 7124 \| TNF \| 2.534 \| DISEASES 54209 \| TREM2 \| 1.081 \| DISEASES 7360 \| UGP2 \| 3.188 \| DISEASES 7432 \| VIP \| 2.097 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1271
Disease	periventricular leukomalacia
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:9) HP:0100021 \| Cerebral palsy \| 5 HP:0001518 \| Small for gestational age \| 2 HP:0030746 \| Intraventricular hemorrhage \| 2 HP:0000505 \| Poor vision \| 2 HP:0001297 \| Cerebral vascular events \| 1 HP:0100543 \| Cognitive deficits \| 1 HP:0002171 \| Cerebral gliosis \| 1 HP:0100704 \| Cortical visual impairment \| 1 HP:0100806 \| Sepsis \| 1

Disease ID	1271
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.)

Text Mining Genotype(Total 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.)

Disease ID	1271
Disease	periventricular leukomalacia
Case	(Waiting for update.)

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