Details of Disease

Disease Name

Periventricular leukomalacia

Definition

Periventricular leukomalacia (PVL) is a brain injury disorder characterized by the death of the white matter of the brain due to softening of the brain tissue. It can affect fetuses or newborns, and premature babies are at the greatest risk of the disorder. PVL is caused by a lack of oxygen or blood flow to thearea around the ventricles of the brain, which results in the death of brain tissue. Although babies with PVL generally have no apparent signs or symptoms of the disorder at delivery, they are at risk for motor disorders, cerebral palsy, delayed mental development, coordination problems, and vision and hearing impairments. There is no cure for PVL. Treatment is generally supportive. Prognosis is dependent on the extent of damage to the ventricles.

Disease Hierarchy

DISDJXKJ: Encephalomalacia

DIS152XL: Periventricular leukomalacia

Disease Identifiers

MONDO ID

MONDO_0015742

MESH ID

D007969

UMLS CUI

C0023529

MedGen ID

6072

HPO ID

HP:0006970

SNOMED CT ID

230769007

General Information of Disease (ID: DIS152XL)

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 1 Investigative Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Erythropoietin	DM3R8YL	Investigative	NA	[1]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
MBP	TT2RY5P	Strong	Biomarker	[2]
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This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RPS6KC1	OT2LRTG4	Limited	Autosomal recessive	[3]
ECHS1	OTS0593S	Strong	Genetic Variation	[4]
IFIT3	OTPGHZB9	Strong	Biomarker	[5]
MYT1	OTC3660I	Strong	Biomarker	[6]
NOP53	OTA2YKO6	Strong	Biomarker	[5]
PEX1	OTQJF0V7	Strong	Genetic Variation	[7]
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⏷ Show the Full List of 6 DOT(s)

References

1	Neuroprotective potential of erythropoietin and its derivative carbamylated erythropoietin in periventricular leukomalacia. Exp Neurol. 2011 Aug;230(2):227-39.
2	The p38 MAPK Deletion in Oligodendroglia does not Attenuate Myelination Defects in a Mouse Model of Periventricular Leukomalacia.Neuroscience. 2018 Aug 21;386:175-181. doi: 10.1016/j.neuroscience.2018.06.037. Epub 2018 Jul 5.
3	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
4	Distinguishing Encephaloclastic Lesions Resulting From Primary or Secondary Pyruvate Dehydrogenase Deficiency From Other Neonatal or Infantile Cavitary Brain Lesions.Pediatr Dev Pathol. 2020 May-Jun;23(3):189-196. doi: 10.1177/1093526619876448. Epub 2019 Sep 22.
5	A model of Periventricular Leukomalacia (PVL) in neonate mice with histopathological and neurodevelopmental outcomes mimicking human PVL in neonates.PLoS One. 2017 Apr 13;12(4):e0175438. doi: 10.1371/journal.pone.0175438. eCollection 2017.
6	Myelin transcription factor 1 (MyT1) immunoreactivity in infants with periventricular leukomalacia.Brain Res Dev Brain Res. 2003 Jan 10;140(1):85-92. doi: 10.1016/s0165-3806(02)00585-0.
7	Zellweger syndrome - a lethal peroxisome biogenesis disorder.J Pediatr Endocrinol Metab. 2013;26(3-4):377-9. doi: 10.1515/jpem-2012-0320.