Periventricular Leukomalacia

Categories: Rare diseases, Neuronal diseases

Aliases & Classifications for Periventricular Leukomalacia

MalaCards integrated aliases for Periventricular Leukomalacia:

Name: Periventricular Leukomalacia 12 76 53 54 59 29 6 15
Leukomalacia, Periventricular 44 73
Leukomalacia Periventricular 55
Pvl 53


External Ids:

Disease Ontology 12 DOID:13088
ICD10 33 P91.2
ICD9CM 35 779.7
MeSH 44 D007969
NCIt 50 C99013
SNOMED-CT 68 230769007
Orphanet 59 ORPHA171676
MESH via Orphanet 45 D007969
UMLS via Orphanet 74 C0023529
UMLS 73 C0023529

Summaries for Periventricular Leukomalacia

NINDS : 54 Periventricular leukomalacia (PVL) is characterized by the death of the white matter of the brain due to softening of the brain tissue. It can affect fetuses or newborns; premature babies are at the greatest risk of the disorder. PVL is caused by a lack of oxygen or blood flow to the periventricular area of the brain, which results in the death or loss of brain tissue. The periventricular area-the area around the spaces in the brain called ventricles-contains nerve fibers that carry messages from the brain to the body's muscles. Although babies with PVL generally have no outward signs or symptoms of the disorder, they are at risk for motor disorders, delayed mental development, coordination problems, and vision and hearing impairments. PVL may be accompanied by a hemorrhage or bleeding in the periventricular-intraventricular area (the area around and inside the ventricles), and can lead to cerebral palsy. The disorder is diagnosed by ultrasound of the head.

MalaCards based summary : Periventricular Leukomalacia, also known as leukomalacia, periventricular, is related to leukomalacia and listeriosis. An important gene associated with Periventricular Leukomalacia is MYT1 (Myelin Transcription Factor 1), and among its related pathways/superpathways are Spinal Cord Injury and Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers. The drugs Dopamine and Levodopa have been mentioned in the context of this disorder. Affiliated tissues include brain, lung and cervix, and related phenotypes are homeostasis/metabolism and mortality/aging

NIH Rare Diseases : 53 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 the area 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.

Wikipedia : 76 Periventricular leukomalacia (PVL) is a form of white-matter brain injury, characterized by the necrosis... more...

Related Diseases for Periventricular Leukomalacia

Diseases related to Periventricular Leukomalacia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 100)
# Related Disease Score Top Affiliating Genes
1 leukomalacia 32.0 IL6 MCOLN1 RPS6KC1 TNF
2 listeriosis 30.8 IL6 TNF
3 brain injury 30.4 EPO IL6 MBP
4 cytomegalovirus infection 29.9 IL6 TNF
5 proliferative verrucous leukoplakia 11.5
6 fetal indomethacin syndrome 11.2
7 scorpion envenomation 10.8 IL6 TNF
8 angioimmunoblastic lymphadenopathy with dysproteinemia 10.8 IL6 TNF
9 critical limb ischemia 10.7 IL6 TNF
10 streptococcal toxic-shock syndrome 10.7 IL6 TNF
11 null-cell leukemia 10.7 IL6 TNF
12 retinitis pigmentosa 55 10.7 IL6 TNF
13 anca-associated vasculitis 10.7 IL6 TNF
14 laryngitis 10.7 IL6 TNF
15 acute vascular insufficiency of intestine 10.7 IL6 TNF
16 posterior urethral valves 10.7 IL6 TNF
17 microscopic colitis 10.7 IL6 TNF
18 meconium aspiration syndrome 10.7 IL6 TNF
19 burning mouth syndrome 10.7 IL6 TNF
20 central nervous system vasculitis 10.7 IL6 TNF
21 osteosclerotic myeloma 10.7 IL6 TNF
22 stachybotrys chartarum 10.7 IL6 TNF
23 louse-borne relapsing fever 10.6 IL6 TNF
24 cerebritis 10.6
25 ischemic heart disease 10.6 IL6 TNF
26 crimean-congo hemorrhagic fever 10.6 IL6 TNF
27 intermediate uveitis 10.6 IL6 TNF
28 monoclonal gammopathy of uncertain significance 10.6 IL6 TNF
29 vibrio vulnificus infection 10.6 EPO IL6
30 post-transplant lymphoproliferative disease 10.6 IL6 TNF
31 eales disease 10.6 IL6 TNF
32 transient arthritis 10.6 IL6 MBP
33 arteriovenous fistula 10.5 EPO IL6
34 hemorrhagic fever 10.5 IL6 TNF
35 acute monoblastic leukemia 10.5 EPO IL6
36 hydrocephalus due to congenital stenosis of aqueduct of sylvius 10.5 MBP NES
37 stromal keratitis 10.5 IL6 TNF
38 cerebral palsy 10.5
39 hematopoietic stem cell transplantation 10.4 IL6 TNF
40 endometritis 10.4 IL6 TNF
41 traumatic brain injury 10.4 IL6 MBP
42 aging 10.3
43 neuronitis 10.3
44 rosacea 10.3 IL6 TNF
45 spinal cord disease 10.3 MBP TNF
46 transverse myelitis 10.3 IL6 MBP TNF
47 myelitis 10.3 IL6 MBP TNF
48 spasticity 10.3
49 viral encephalitis 10.3 IL6 MBP TNF
50 central nervous system disease 10.3 IL6 MBP TNF

Graphical network of the top 20 diseases related to Periventricular Leukomalacia:

Diseases related to Periventricular Leukomalacia

Symptoms & Phenotypes for Periventricular Leukomalacia

MGI Mouse Phenotypes related to Periventricular Leukomalacia:

# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.81 ALOX15 EPO IL6 MBP MCOLN1 MYT1
2 mortality/aging MP:0010768 9.65 MBP MCOLN1 MYT1 PDHA1 SLC1A2 TNF
3 muscle MP:0005369 9.1 EPO IL6 MCOLN1 MYT1 PDHA1 TNF

Drugs & Therapeutics for Periventricular Leukomalacia

Drugs for Periventricular Leukomalacia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 181)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Dopamine Approved Phase 4,Phase 3,Phase 1 51-61-6, 62-31-7 681
Levodopa Approved Phase 4 59-92-7 6047
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 4,Phase 3 7487-88-9 24083
Betamethasone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable 378-44-9 9782
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable 50-02-2 5743
Progesterone Approved, Vet_approved Phase 4,Phase 2,Phase 3 57-83-0 5994
Ibuprofen Approved Phase 4,Phase 3,Phase 1,Not Applicable 15687-27-1 3672
8 Poractant alfa Approved Phase 4 129069-19-8
Labetalol Approved Phase 4 36894-69-6 3869
Methyldopa Approved Phase 4 555-30-6 38853
Nifedipine Approved Phase 4 21829-25-4 4485
Indomethacin Approved, Investigational Phase 4,Phase 1,Phase 2 53-86-1 3715
Glucosamine Approved, Investigational, Nutraceutical Phase 4 3416-24-8 439213
14 Autonomic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
15 Carbidopa, levodopa drug combination Phase 4
16 Dihydroxyphenylalanine Phase 4
17 Dopamine Agents Phase 4,Phase 3,Phase 1
18 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
19 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
20 Protective Agents Phase 4,Phase 3,Phase 2,Phase 1
21 Analgesics Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
22 Anesthetics Phase 4,Phase 3
23 Anti-Arrhythmia Agents Phase 4,Phase 3
24 Anticonvulsants Phase 4,Phase 3
25 calcium channel blockers Phase 4,Phase 3
26 Calcium, Dietary Phase 4,Phase 3,Not Applicable
27 Central Nervous System Depressants Phase 4,Phase 3
28 Tocolytic Agents Phase 4,Phase 3,Phase 1,Phase 2
29 Respiratory System Agents Phase 4,Phase 3,Phase 2,Not Applicable
30 Pulmonary Surfactants Phase 4,Phase 3,Phase 2,Phase 1
31 Anticoagulants Phase 4,Phase 3,Not Applicable
32 Anti-Asthmatic Agents Phase 4,Phase 2,Phase 3,Not Applicable
33 Antiemetics Phase 4,Phase 2,Phase 3,Not Applicable
34 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
35 Antineoplastic Agents, Hormonal Phase 4,Phase 2,Phase 3,Not Applicable
36 BB 1101 Phase 4,Phase 2,Phase 3,Not Applicable
37 Betamethasone benzoate Phase 4,Phase 2,Phase 3,Not Applicable
38 Betamethasone sodium phosphate Phase 4,Phase 2,Phase 3,Not Applicable
39 Betamethasone Valerate Phase 4,Phase 2,Phase 3,Not Applicable 2152-44-5
40 Betamethasone-17,21-dipropionate Phase 4,Phase 2,Phase 3,Not Applicable
41 Dexamethasone acetate Phase 4,Phase 2,Phase 3,Not Applicable 1177-87-3
42 Gastrointestinal Agents Phase 4,Phase 2,Phase 3,Not Applicable
43 glucocorticoids Phase 4,Phase 2,Phase 3,Not Applicable
44 HIV Protease Inhibitors Phase 4,Phase 3,Not Applicable
45 Hormone Antagonists Phase 4,Phase 2,Phase 3,Not Applicable
46 Hormones Phase 4,Phase 2,Phase 3,Not Applicable
47 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3,Not Applicable
protease inhibitors Phase 4,Phase 3,Not Applicable
49 Vasodilator Agents Phase 4,Phase 3,Phase 2
50 Fibrinolytic Agents Phase 4,Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 132)
# Name Status NCT ID Phase Drugs
1 Dopamine Treatment in Children With Cerebral Palsy With Dystonia- A Double Blind Controlled Study Unknown status NCT01361373 Phase 4 L- DOPA;placebo
2 Neuroprotection by Magnesium Sulfate Given to Women at Risk of Very Preterm Birth Completed NCT00120588 Phase 4 magnesium
3 A Randomized Trial Comparing the Impact of One Versus Two Courses of Antenatal Steroids (ACS) on Neonatal Outcome Completed NCT00201643 Phase 4 Betamethasone or Dexamethasone (2nd course of ACS);Placebo
4 Evaluation of Use of Plastic Bags to Prevent Neonatal Hypothermia-Part IV Completed NCT01604447 Phase 4
5 Evaluate the Use of Plastic Bags in Preventing and Treating Hypothermia in Neonates Completed NCT01403623 Phase 4
6 OPTIMIST-A Trial: Minimally-invasive Surfactant Therapy in Preterm Infants 25-28 Weeks Gestation on CPAP Recruiting NCT02140580 Phase 4
7 Early Vascular Adjustments During Hypertensive Pregnancy Recruiting NCT02531490 Phase 4 Labetalol;Nifedipine;Methyldopa
8 TRAP Intervention STudy: Early Versus Late Intervention for Twin Reversed Arterial Perfusion Sequence Recruiting NCT02621645 Phase 4
9 Randomized Controlled Trial of Vaginal Progesterone in Women With Threatened Preterm Labor Terminated NCT01286246 Phase 4 Vaginal progesterone;Placebo
10 Comparing Ibuprofen And Indomethacin For The Treatment Of The Patent Ductus Arteriosus in Very Premature Babies Withdrawn NCT00470743 Phase 4 Ibuprofen;Indomethacin
11 Management of Hypotension In the Preterm Infant Unknown status NCT01482559 Phase 3 Dopamine hydrochloride;Dextrose 5%
12 Magnesium Sulfate to Prevent Brain Injury in Premature Infants Unknown status NCT00065949 Phase 3 magnesium sulfate
13 Hybrid Versus Norwood Management Strategies in Infants Undergoing Single Ventricle Palliation Unknown status NCT01134302 Phase 3
14 Premature Infants in Need of Transfusion (PINT) Completed NCT00182390 Phase 3
15 Antenatal Phenobarbital to Prevent Neonatal Intracranial Hemorrhage Completed NCT00009620 Phase 3 Phenobarbital;Saline
16 Pharmacokinetics, Safety and Efficacy Study of Recombinant Antithrombin Versus Placebo in Preterm Preeclampsia Completed NCT02059135 Phase 3
17 Beneficial Effects of Antenatal Magnesium Sulfate (BEAM Trial) Completed NCT00014989 Phase 3 magnesium sulfate
18 17OHP for Reduction of Neonatal Morbidity Due to Preterm Birth (PTB) in Twin and Triplet Pregnancies Completed NCT00163020 Phase 2, Phase 3 17-alpha-hydroxyprogesterone caproate injectable;Placebo
19 Fluconazole Prophylaxis for the Prevention of Candidiasis in Infants Less Than 750 Grams Birthweight Completed NCT00734539 Phase 3 fluconazole;placebo
20 NIV Strategies for RDS in Preterm Infants. NIV (Non Invasive Ventilation), RDS (Respiratory Distress Syndrome) Completed NCT02259400 Phase 2, Phase 3
21 Surfactant Positive Airway Pressure and Pulse Oximetry Trial Completed NCT00233324 Phase 3 Surfactant;Supplemental oxygen with target saturation of 85 to 89%;Supplemental oxygen with target saturation of 91 to 95%
22 Caffeine for Apnea of Prematurity (CAP) Completed NCT00182312 Phase 3 Caffeine citrate injection
23 Pentoxifylline and Late Onset Sepsis in Preterm Infants Completed NCT02163174 Phase 3 Pentoxifylline (PTX);Placebo
24 High Versus Low Dose of Caffeine for Apnea of Prematurity Completed NCT02103777 Phase 3 Caffeine citrate
25 Safety and Efficacy Study of Ibuprofen l-Lysine Solution in Premature Infants for Treatment of PDA Completed NCT00440804 Phase 3 ibuprofen l-lysine iv solution (NeoProfen (R) )
26 Omega-3 Fatty Acid Supplementation to Prevent Preterm Birth in High Risk Pregnancies Completed NCT00135902 Phase 3 17 alpha-Hydroxyprogesterone Caproate and Omega-3 fish oils
27 Trial of Aggressive Versus Conservative Phototherapy in Infants <1,000 Grams Birth Weight Completed NCT00114543 Phase 3
28 Trial of Progesterone in Twins and Triplets to Prevent Preterm Birth (STTARS) Completed NCT00099164 Phase 3 17 alpha-hydroxyprogesterone caproate (17P)
29 Prevention of Maternal and Perinatal Complications by Enoxaparin in Women With Previous Severe Preeclampsia Completed NCT00986765 Phase 3 Lovenox® (enoxaparin);Aspegic ® (Aspirin)
30 Effect of Erythropoietin in Premature Infants on White Matter Lesions and Neurodevelopmental Outcome Recruiting NCT03110341 Phase 3 Erythropoietin;Normal saline
31 Impact of a Booster Course of Antenatal Steroids on Neonatal Outcome in Patients With Premature Rupture of the Membranes Recruiting NCT02469519 Phase 2, Phase 3 Betamethasone - ACTIVE
32 Dose Reduction of Antenatal Betamethasone Given to Prevent the Neonatal Complications Associated With Very Preterm Birth Recruiting NCT02897076 Phase 3 betamethasone 24 mg;12mg betamethasone +placebo
33 Tracheal Occlusion To Accelerate Lung Growth (TOTAL) Trial for Severe Pulmonary Hypoplasia Recruiting NCT01240057 Phase 2, Phase 3
34 Does a Rescue Course of Betamethasone in Pregnant Women With PPROM Decrease Neonatal Morbidity? Recruiting NCT02939742 Phase 2, Phase 3 Betamethasone;Placebo
35 Low-molecular-weight Heparin in Constituted Vascular Intrauterine Growth Restriction Recruiting NCT02672566 Phase 3 Enoxaparin
36 Inhaled Nitric Oxide and Neuroprotection in Premature Infants Active, not recruiting NCT00515281 Phase 2, Phase 3 inhaled nitric oxide;oxygen
37 Maternal Omega-3 Supplementation to Reduce Bronchopulmonary Dysplasia Active, not recruiting NCT02371460 Phase 3
38 Transfusion of Prematures Trial Active, not recruiting NCT01702805 Phase 3
39 Cervical Pessary vs Vaginal Progesterone in Preventing Preterm Birth Among Women Presenting With Short Cervix: An Open-label Randomized Controlled Trial Not yet recruiting NCT02470676 Phase 2, Phase 3 Progesterone
40 Treatment of Intrauterine Growth Restriction With Low Molecular Heparin. Not yet recruiting NCT03324139 Phase 3 Low molecular weight heparin;Placebos
41 Efficacy and Safety of Goat Lung Surfactant for the Treatment of Respiratory Distress Syndrome in Preterm Neonates Not yet recruiting NCT02774044 Phase 2, Phase 3 Cadisurf;Survanta
42 Probiotics for the Prevention of Premature Birth and Neonatal Related Morbidity Terminated NCT00303082 Phase 3 Lactobacillus rhamnosus GR1 and Lactobacillus reuteri RC-14
43 Minimal Breathing Support and Early Steroids to Prevent Chronic Lung Disease in Extremely Premature Infants (SAVE) Terminated NCT00005777 Phase 3 Dexamethasone;Placebo
44 A Phase III Efficacy and Safety Study of Intravenous Retosiban Versus Placebo for Women in Spontaneous Preterm Labor Terminated NCT02377466 Phase 3 Retosiban IV infusion;Placebo IV infusion
45 Effectiveness of ACS in Extreme Preemies Withdrawn NCT02351310 Phase 3 Betamethasone
46 Vaginal Progesterone in Twins With Short Cervix Withdrawn NCT01812239 Phase 2, Phase 3 Vaginal Progesterone gel.;Placebo gel
47 Recombinant Erythropoietin for Neuroprotection in Very Preterm Infants Unknown status NCT00910234 Phase 1, Phase 2 recombinant human erythropoietin (rhEpo);recombinant human erythropoietin (rhEpo);Normal saline
48 Minimally Invasive Surfactant Therapy Followed by CPAP (MISTCPAP) in Preterm Infants With RDS Unknown status NCT01723683 Phase 2 Surfactant
49 High-frequency Oscillatory Ventilation (HFOV) in Preterm Infants With Severe Respiratory Distress Syndrome (RDS) Completed NCT01496508 Phase 2
50 Does Erythropoietin Improve Outcome in Very Preterm Infants? Completed NCT00413946 Phase 2 Recombinant human Erythropoietin;saline

Search NIH Clinical Center for Periventricular Leukomalacia

Cochrane evidence based reviews: leukomalacia, periventricular

Genetic Tests for Periventricular Leukomalacia

Genetic tests related to Periventricular Leukomalacia:

# Genetic test Affiliating Genes
1 Periventricular Leukomalacia 29

Anatomical Context for Periventricular Leukomalacia

MalaCards organs/tissues related to Periventricular Leukomalacia:

Brain, Lung, Cervix, Heart, Placenta, Cortex, Pons

Publications for Periventricular Leukomalacia

Articles related to Periventricular Leukomalacia:

(show top 50) (show all 405)
# Title Authors Year
The p38I+ MAPK deletion in oligodendroglia does not attenuate myelination defects in a mouse model of periventricular leukomalacia. ( 29966722 )
Development of postural control in infancy in cerebral palsy and cystic periventricular leukomalacia. ( 29787891 )
Improvement by Human Oligodendrocyte Progenitor Cells of Neurobehavioral Disorders in an Experimental Model of Neonatal Periventricular Leukomalacia. ( 29978719 )
Is hiragana decoding impaired in children with periventricular leukomalacia? ( 29908673 )
Congenital Cytomegalovirus Infection and the Occurrence of Cystic Periventricular Leukomalacia. ( 29217314 )
Outcome of Preterm Infants with Transient Cystic Periventricular Leukomalacia on Serial Cranial Imaging Up to Term Equivalent Age. ( 29398046 )
Cystic periventricular leukomalacia: now you see it, now you don't? ( 29576177 )
Identifying Risk Factors Shared by Bronchopulmonary Dysplasia, Severe Retinopathy, and Cystic Periventricular Leukomalacia in Very Preterm Infants for Targeted Intervention. ( 29621770 )
Neuronalinjury and roles of apoptosis and autophagy in a neonatal rat model of hypoxia-ischemia-induced periventricular leukomalacia. ( 29436652 )
Supramodal agnosia for oblique mirror orientation in patients with periventricular leukomalacia. ( 29655042 )
Ophthalmic Manifestations in Children with Periventricular Leukomalacia. ( 29511949 )
Pathophysiology of periventricular leukomalacia: What we learned from animal models. ( 29239318 )
Association between perinatal hypoxic-ischemia and periventricular leukomalacia in preterm infants: A systematic review and meta-analysis. ( 28931047 )
Upper Limb Function, Kinematic Analysis, and Dystonia Assessment in Children With Spastic Diplegic Cerebral Palsy and Periventricular Leukomalacia. ( 28776460 )
Periventricular leukomalacia with -16 DS high myopia in a 2A1 months old infant: A rare case presentation. ( 29118507 )
A model of Periventricular Leukomalacia (PVL) in neonate mice with histopathological and neurodevelopmental outcomes mimicking human PVL in neonates. ( 28406931 )
Neuroprotective effects of human umbilical cord-derived mesenchymal stem cells on periventricular leukomalacia-like brain injury in neonatal rats. ( 29259700 )
The vulnerability of thalamocortical circuitry to hypoxic-ischemic injury in a mouse model of periventricular leukomalacia. ( 26733225 )
The association between pro- and anti-inflammatory cytokine polymorphisms and periventricular leukomalacia in newborns with hypoxic-ischemic encephalopathy. ( 27217792 )
Intranasal surfactant protein D as neuroprotective rescue in a neonatal rat model of periventricular leukomalacia. ( 27109442 )
Slow pupillary light responses in infants at high risk of cerebral palsy were associated with periventricular leukomalacia and neurological outcome. ( 27468114 )
Quality of Life of Children with Cystic Periventricular Leukomalacia - A Prospective Analysis with the Child Health Questionnaire-Parent Form 50. ( 27242979 )
Periventricular leukomalacia in a neonatal calf. ( 27010465 )
Isolated Cystic Periventricular Leukomalacia Differs from Cystic Periventricular Leukomalacia with Intraventricular Hemorrhage in Prevalence, Risk Factors and Outcomes in Preterm Infants. ( 27643988 )
Diffusion-Weighted Imaging of Periventricular Leukomalacia in Very Young Children: Assessment of Peritrigonal Stripe of Restricted Diffusion. ( 28030870 )
The whole spectrum of cystic periventricular leukomalacia of the preterm infant: results from a large consecutive case series. ( 26099229 )
Screening Cranial Imaging at Multiple Time Points Improves Cystic Periventricular Leukomalacia Detection. ( 25730135 )
Bioinformatics analyses combined microarray identify the differentially expressed microRNAs in periventricular leukomalacia. ( 26812286 )
Chloride cotransporter NKCC1 inhibitor bumetanide protects against white matter injury in a rodent model of periventricular leukomalacia. ( 25585037 )
Antenatal exposure to indomethacin increases the risk of severe intraventricular hemorrhage, necrotizing enterocolitis, and periventricular leukomalacia: a systematic review with metaanalysis. ( 25448524 )
Impact of risk factors other than prematurity on periventricular leukomalacia. A population-based matched case control study. ( 25748489 )
Scoring system for periventricular leukomalacia in infants with congenital heart disease. ( 25996891 )
Two important factors affecting the transition to breastfeeding in preterm infants: corrected age and periventricular leukomalacia. ( 26265900 )
Relationship between white matter integrity and severity of motor impairment in children with cerebral palsy caused by periventricular leukomalacia. ( 26531639 )
Clinical study of cerebral palsy in 408 children with periventricular leukomalacia. ( 25780432 )
Increased fetal heart rate variability in periventricular leukomalacia. ( 26338690 )
Relation between prognosis and changes of MBP and S100B in premature infants with periventricular leukomalacia. ( 25966206 )
Corticospinal Tract Injury Precedes Thalamic Volume Reduction in Preterm Infants with Cystic Periventricular Leukomalacia. ( 26054943 )
The Effects of the Severity of Periventricular Leukomalacia on the Neuropsychological Outcomes of Preterm Children. ( 26385973 )
Severe cystic periventricular leukomalacia in a premature infant with capnocytophaga sepsis. ( 25452885 )
Retinal vessel pathologies in a rat model of periventricular leukomalacia: a new model for retinopathy of prematurity? ( 25698709 )
Latency after preterm prelabor rupture of the membranes: increased risk for periventricular leukomalacia. ( 25136457 )
Visual Evoked Potentials in Infants with Diffuse Periventricular Leukomalacia. ( 24615931 )
Neurodevelopmental outcomes of children with periventricular leukomalacia. ( 23727042 )
White matter loss in a mouse model of periventricular leukomalacia is rescued by trophic factors. ( 24961618 )
Risk factors for preoperative periventricular leukomalacia in term neonates with hypoplastic left heart syndrome are patient related. ( 23879933 )
Diphenyleneiodonium protects preoligodendrocytes against endotoxin-activated microglial NADPH oxidase-generated peroxynitrite in a neonatal rat model of periventricular leukomalacia. ( 23174417 )
Using the Alberta Infant Motor Scale to early identify very low-birth-weight infants with cystic periventricular leukomalacia. ( 21959127 )
Preterm twin and triplet pregnancies are at increased risk for the development of cystic periventricular leukomalacia. ( 22795624 )
Diffusion tensor imaging-demonstrated differences between hemiplegic and diplegic cerebral palsy with symmetric periventricular leukomalacia. ( 22976239 )

Variations for Periventricular Leukomalacia

ClinVar genetic disease variations for Periventricular Leukomalacia:

# Gene Variation Type Significance SNP ID Assembly Location
1 RPS6KC1 NM_001287219.2(RPS6KC1): c.2074G> A (p.Gly692Ser) single nucleotide variant Likely pathogenic rs61751035 GRCh37 Chromosome 1, 213415529: 213415529
2 RPS6KC1 NM_001287219.2(RPS6KC1): c.2074G> A (p.Gly692Ser) single nucleotide variant Likely pathogenic rs61751035 GRCh38 Chromosome 1, 213242186: 213242186
3 RPS6KC1 NC_000001.10: g.(?_213396378)_(213592823_?)del deletion Likely pathogenic GRCh37 Chromosome 1, 213396378: 213592823
4 MCOLN1 NM_020533.2(MCOLN1): c.378C> G (p.Tyr126Ter) single nucleotide variant Likely pathogenic rs1057518782 GRCh37 Chromosome 19, 7591465: 7591465
5 MCOLN1 NM_020533.2(MCOLN1): c.378C> G (p.Tyr126Ter) single nucleotide variant Likely pathogenic rs1057518782 GRCh38 Chromosome 19, 7526579: 7526579
6 MCOLN1 NM_020533.2(MCOLN1): c.777+1G> C single nucleotide variant Likely pathogenic rs1057518781 GRCh38 Chromosome 19, 7527961: 7527961
7 MCOLN1 NM_020533.2(MCOLN1): c.777+1G> C single nucleotide variant Likely pathogenic rs1057518781 GRCh37 Chromosome 19, 7592847: 7592847
8 ARID1A NM_006015.5(ARID1A): c.5090A> G (p.Asp1697Gly) single nucleotide variant Likely pathogenic rs375761808 GRCh38 Chromosome 1, 26775673: 26775673
9 ARID1A NM_006015.5(ARID1A): c.5090A> G (p.Asp1697Gly) single nucleotide variant Likely pathogenic rs375761808 GRCh37 Chromosome 1, 27102164: 27102164

Expression for Periventricular Leukomalacia

Search GEO for disease gene expression data for Periventricular Leukomalacia.

Pathways for Periventricular Leukomalacia

GO Terms for Periventricular Leukomalacia

Cellular components related to Periventricular Leukomalacia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phagocytic cup GO:0001891 8.62 MCOLN1 TNF

Biological processes related to Periventricular Leukomalacia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of chemokine production GO:0032722 9.26 IL6 TNF
2 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.16 ALOX15 TNF
3 negative regulation of lipid storage GO:0010888 8.96 IL6 TNF
4 response to salt stress GO:0009651 8.62 EPO TNF

Sources for Periventricular Leukomalacia

9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
55 Novoseek
58 OMIM via Orphanet
62 PubMed
70 SNOMED-CT via Orphanet
72 Tocris
74 UMLS via Orphanet
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