PVL
MCID: PRV004
MIFTS: 50

Periventricular Leukomalacia (PVL)

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Periventricular Leukomalacia

MalaCards integrated aliases for Periventricular Leukomalacia:

Name: Periventricular Leukomalacia 12 75 53 54 59 6 15 17
Leukomalacia, Periventricular 44 72
Leukomalacia Periventricular 55
Pvl 53

Classifications:



External Ids:

Disease Ontology 12 DOID:13088
ICD9CM 35 779.7
MeSH 44 D007969
NCIt 50 C99013
ICD10 33 P91.2
MESH via Orphanet 45 D007969
UMLS via Orphanet 73 C0023529
Orphanet 59 ORPHA171676
UMLS 72 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 listeriosis and brain injury. 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 Levodopa and Magnesium Sulfate have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and lung, and related phenotypes are homeostasis/metabolism and growth/size/body region

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 : 75 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 227)
# Related Disease Score Top Affiliating Genes
1 listeriosis 30.8 TNF IL6
2 brain injury 30.5 MBP IL6 EPO
3 proliferative verrucous leukoplakia 11.8
4 congenital disorder of glycosylation with defective fucosylation 2 11.5
5 fetal indomethacin syndrome 11.5
6 cerebral palsy 11.1
7 spastic diplegia 10.8
8 chorioamnionitis 10.7
9 quadriplegia 10.7
10 locked-in syndrome 10.7
11 hydrocephalus, congenital, 1 10.7
12 scorpion envenomation 10.6 TNF IL6
13 angioimmunoblastic lymphadenopathy with dysproteinemia 10.6 TNF IL6
14 autoimmune myocarditis 10.6 TNF IL6
15 streptococcal toxic-shock syndrome 10.6 TNF IL6
16 cardiogenic shock 10.6 TNF IL6
17 juvenile ankylosing spondylitis 10.6 TNF IL6
18 null-cell leukemia 10.6 TNF IL6
19 retinitis pigmentosa 55 10.6 TNF IL6
20 laryngitis 10.6 TNF IL6
21 glossitis 10.6 TNF IL6
22 strabismus 10.6
23 hydrocephalus 10.6
24 spastic quadriplegia 10.6
25 mechanical strabismus 10.6
26 congenital hydrocephalus 10.6
27 posterior urethral valves 10.6 TNF IL6
28 acute vascular insufficiency of intestine 10.5 TNF IL6
29 west syndrome 10.5
30 osteosclerotic myeloma 10.5 TNF IL6
31 periapical periodontitis 10.5 TNF IL6
32 stachybotrys chartarum 10.5 TNF IL6
33 central nervous system vasculitis 10.5 TNF IL6
34 patent ductus arteriosus 1 10.5
35 spastic cerebral palsy 10.5
36 pre-eclampsia 10.5
37 burning mouth syndrome 10.5 TNF IL6
38 meconium aspiration syndrome 10.5 TNF IL6
39 autoimmune gastritis 10.5 TNF IL6
40 louse-borne relapsing fever 10.5 TNF IL6
41 pathologic nystagmus 10.5
42 bronchopulmonary dysplasia 10.5
43 encephalopathy 10.5
44 seizure disorder 10.5
45 cerebral visual impairment 10.5
46 endometrial disease 10.5 TNF IL6
47 intermediate uveitis 10.4 TNF IL6
48 exudative vitreoretinopathy 1 10.4
49 enterocolitis 10.4
50 hemiplegia 10.4

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.11 ALOX15 ARID1A DNAH11 EPO IL6 MBP
2 growth/size/body region MP:0005378 10.09 ALOX15 ARID1A DNAH11 IL6 MBP MCOLN1
3 cardiovascular system MP:0005385 10.08 ALOX15 ARID1A DNAH11 EPO IL6 MCOLN1
4 cellular MP:0005384 10.06 ALOX15 ARID1A DNAH11 EPO IL6 MBP
5 mortality/aging MP:0010768 10.03 ALOX15 ARID1A CPVL DNAH11 EPO IL6
6 hematopoietic system MP:0005397 10.01 ALOX15 ARID1A DNAH11 EPO IL6 MBP
7 immune system MP:0005387 9.92 ALOX15 ARID1A DNAH11 EPO IL6 MBP
8 muscle MP:0005369 9.76 ARID1A DNAH11 EPO IL6 MCOLN1 MYT1
9 reproductive system MP:0005389 9.5 ALOX15 ARID1A DNAH11 IL6 MBP PDHA1
10 vision/eye MP:0005391 9.1 ARID1A DNAH11 IL6 MBP MCOLN1 TNF

Drugs & Therapeutics for Periventricular Leukomalacia

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

(show top 50) (show all 128)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Levodopa Approved Phase 4 59-92-7 6047
2
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 4 7487-88-9 24083
3 Poractant alfa Approved Phase 4 129069-19-8
4 Beractant Approved Phase 4 108778-82-1
5
Betamethasone Approved, Vet_approved Phase 4 378-44-9 9782
6 Dihydroxyphenylalanine Phase 4
7 Carbidopa, levodopa drug combination Phase 4
8 Central Nervous System Depressants Phase 4
9 Anesthetics Phase 4
10 Anti-Arrhythmia Agents Phase 4
11 Anticonvulsants Phase 4
12 calcium channel blockers Phase 4
13 Hematinics Phase 4
14 Epoetin alfa Phase 4 113427-24-0
15 Pharmaceutical Solutions Phase 4
16 Hormones Phase 4
17 Anti-Inflammatory Agents Phase 4
18 Respiratory System Agents Phase 4
19 Anti-Asthmatic Agents Phase 4
20 Hormone Antagonists Phase 4
21 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
22 Pulmonary Surfactants Phase 4
23 glucocorticoids Phase 4
24 Betamethasone-17,21-dipropionate Phase 4
25 Betamethasone sodium phosphate Phase 4
26 Betamethasone Valerate Phase 4 2152-44-5
27 Betamethasone benzoate Phase 4
28
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
29
Pentoxifylline Approved, Investigational Phase 3 6493-05-6 4740
30
Phenobarbital Approved, Investigational Phase 3 50-06-6 4763
31
Nitric Oxide Approved Phase 2, Phase 3 10102-43-9 145068
32 Peripheral Nervous System Agents Phase 3
33 Protective Agents Phase 3
34 Autonomic Agents Phase 3
35 Sympathomimetics Phase 3
36 Cardiotonic Agents Phase 3
37 Dopamine Agents Phase 3
38 Tocolytic Agents Phase 3
39 Antibiotics, Antitubercular Phase 3
40 Antitubercular Agents Phase 3
41 Anti-Infective Agents Phase 3
42 Anti-Bacterial Agents Phase 3
43 Radiation-Protective Agents Phase 3
44 Platelet Aggregation Inhibitors Phase 3
45 GABA Agents Phase 3
46 Hypnotics and Sedatives Phase 3
47 GABA Modulators Phase 3
48 Excitatory Amino Acid Antagonists Phase 3
49 Cytochrome P-450 CYP3A Inducers Phase 3
50 Excitatory Amino Acids Phase 3

Interventional clinical trials:

(show top 50) (show all 78)
# 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 Effect of Magnesium Sulfate on the Incidence of Periventricular Leukomalacia in the Very Preterm Neonate Completed NCT00120588 Phase 4 magnesium
3 Effect of Erythropoietin on Preterm Brain Injury Completed NCT02036073 Phase 4 recombinant human erythropoietin
4 Randomized Evaluation of the Use of Plastic Bags to Prevent Neonatal Hypothermia in Developing Countries-Part IV Completed NCT01604447 Phase 4
5 Synchronized Intermittent Mandatory Ventilation (SIMV) Versus Nasal Intermittent Positive Pressure Ventilation (NIPPV) In Preterm Infants With Respiratory Distress Completed NCT00486850 Phase 4
6 Multicentre Randomised Controlled Trial of Minimally-invasive Surfactant Therapy in Preterm Infants 25-28 Weeks Gestation on Continuous Positive Airways Pressure Recruiting NCT02140580 Phase 4
7 Phase 4 Study of Curosurf (Poractant) and Survanta (Beractant) Surfactant Treatment in Very Premature Infants With Respiratory Distress Syndrome. Terminated NCT00767039 Phase 4 Survanta (beractant);Curosurf (poractant)
8 Randomized Trial on Efficacy and Safety of the Antenatal Rescue Course of Glucocorticoids in Threatened Premature Birth (ACG Trial) Terminated NCT00295464 Phase 4 Betamethasone sodium phos (drug)
9 Magnesium Prevention of Brain Injury in Preterm Infants Unknown status NCT00065949 Phase 3 magnesium sulfate
10 Management of Hypotension In Preterm Infants: The HIP Trial Protocol for a Randomized Controlled Trial of Hypotension Management in the Extremely Low Gestational Age Newborn Unknown status NCT01482559 Phase 3 Dopamine hydrochloride;Dextrose 5%
11 Randomized Clinical Trial of the Beneficial Effects of Antenatal Magnesium Sulfate (BEAM) Completed NCT00014989 Phase 3 magnesium sulfate
12 A Randomized Controlled Trial of Two Hemoglobin Thresholds for Transfusion in Newborns <1000g Birth Weight Completed NCT00182390 Phase 3
13 High Versus Low Dose of Caffeine for Apnea of Prematurity: A Double Blind Randomized Control Trial Completed NCT02103777 Phase 3 Caffeine citrate
14 Pentoxifylline Therapy of Late-onset Sepsis in Preterm Infants: A Randomized Controlled Trial. Completed NCT02163174 Phase 3 Pentoxifylline (PTX);Placebo
15 Heat Loss Prevention in Delivery Room: a Prospective, Randomised, Controlled Trial of Polyethylene Caps in Very Preterm Infants Completed NCT00930917 Phase 3
16 Randomized Clinical Trial of Antenatal Phenobarbital in the Prevention of Neonatal Intracranial Hemorrhage Completed NCT00009620 Phase 3 Phenobarbital;Saline
17 High Frequency Ventilation in Premature Infants (HIFI) Completed NCT00000567 Phase 3
18 Effect of Early Application of Recombinant Human Erythropoietin in Premature Infants on White Matter Lesions and Neurodevelopmental Outcome Recruiting NCT03110341 Phase 3 Erythropoietin;Normal saline
19 Inhaled Nitric Oxide and Neuroprotection in Premature Infants Active, not recruiting NCT00515281 Phase 2, Phase 3 inhaled nitric oxide;oxygen
20 Clinical Trial for the Prevention of Premature Birth and Neonatal Related Morbidity Terminated NCT00303082 Phase 3 Lactobacillus rhamnosus GR1 and Lactobacillus reuteri RC-14
21 Early Treatment With Recombinant Erythropoietin for Neuroprotection in Very Preterm Infants: Comparison of High and Low Dose Unknown status NCT00910234 Phase 1, Phase 2 recombinant human erythropoietin (rhEpo);recombinant human erythropoietin (rhEpo);Normal saline
22 Neuroprotective Effect of High Dose Erythropoietin in Very Preterm Infants Completed NCT00413946 Phase 2 Recombinant human Erythropoietin;saline
23 Safety of N-acetylcysteine in Maternal Chorioamnionitis Completed NCT00724594 Phase 1, Phase 2 N-acetylcysteine;Control
24 Indomethacin and Delayed Umbilical Cord Clamp for Preterm Infant IVH Recruiting NCT02221219 Phase 1, Phase 2 Indomethacin;placebo infusion
25 Antibiotic Effects on the Developing Microbiome, Metabolome and Morbidities in Preterm Neonates Recruiting NCT02784821 Phase 2 Antibiotic;Antibiotics - pre-emptive
26 Randomized Trial of Maternal Progesterone Therapy to Improve Neurodevelopmental Outcomes in Infants With Congenital Heart Disease Recruiting NCT02133573 Phase 2 Progesterone;Vaginal lubricant
27 A Phase IIb Randomized, Placebo-controlled, Double-blind Trial of Azithromycin to Eradicate Ureaplasma Respiratory Tract Infection in Preterm Infants Active, not recruiting NCT01778634 Phase 2 Azithromycin;Placebo
28 A Phase I/II Study of Allogeneic Umbilical Cord Blood and Umbilical Cord Tissue-Derived Mesenchymal Stromal Cell Infusions in Children With Cerebral Palsy Active, not recruiting NCT03473301 Phase 1, Phase 2
29 High-Dose Erythropoietin in Very Low Birth Weight Infants for the Potential Treatment of Prematurity-Related Cerebral Hemorrhagic-Ischemic Injury: A Phase II Safety/Tolerability Study Terminated NCT00589953 Phase 2 Erythropoietin;Saline placebo
30 Phase 2 Study of Oral Probiotics Reduce the Incidence and Severity of Necrotizing Enterocolitis for Very Low Birth Weight Infants -Multi-Center Randomized Control Trial Terminated NCT00540033 Phase 2
31 S100B as a Marker of Brain Injury of Preterm Infants Unknown status NCT02082535
32 Corpus Callosum Size in Patients With Pineal Cyst Unknown status NCT03183427
33 The Effect on Immunological Parameters and Growth of Olive Oil and Eoprotin Used as a Fortification Breast Milk at the VLBW Babies Unknown status NCT02832011
34 SLI STUDY: Sustained Lung Inflation in the Delivery Room in Preterm Infants at High Risk of Respiratory Distress Syndrome. A RCT Study Unknown status NCT01440868
35 Treatment of Hypotension of Prematurity: a Randomized, Non-blinded Cohort Clinical Trial Unknown status NCT01434251
36 Early Development of Sleep-wake Cycles in Premature Infants and Its Impact on Neurodevelopmental Outcome Unknown status NCT01774318
37 The Correlation of CO2 Measured by SenTec Transcutaneous Monitoring With Arterial Blood Gas CO2 Levels in Neonates Unknown status NCT03268395
38 Randomized Trial of Liberal Versus Restrictive Guidelines for Red Blood Cell Transfusion in Preterm Infants Completed NCT00369005
39 Telerehabilitation of Working Memory in Children With Periventricular Leukomalacia and Bilateral Cerebral Palsy, a Neuropsychological and Electrophysiological (High-density EEG) Study Completed NCT02342990
40 In Utero Magnesium Sulfate Exposure: Effects on Extremely-Low-Birth-Weight (ELBW) Infants Completed NCT01203501
41 Umbilical Cord Blood Proteomic Analysis and Neonatal Brain Injury Completed NCT00375908
42 Placental Transfusion in Preterm Infants Born at Less Than 34 Weeks of Gestation … Role of "Delayed" Cord Clamping and Umbilical Cord Milking Completed NCT02400697
43 Neonatal Outcome by Reason for Delivery - A Prospective, Observational Study Completed NCT01818518
44 Laryngeal Mask Airway (LMA) for Surfactant Administration in Neonates Completed NCT01116921 Surfactants, Pulmonary
45 Assessment of Autonomic Maturation in Neonatal Period and Early Neural Development From a Longitudinal Prospective Cohort : the AuBE Study Completed NCT00951860
46 A Study to Determine If Inflammatory Cytokines Are Associated With Perinatal Brain Injury and Long Term Neurodevelopmental Handicap or Death Completed NCT01035697
47 Early Prediction of Cerebral Palsy in Preterm Infants and Term Infants Using Detection of Generalized Movements Completed NCT00749008
48 Optic Nerve Head Morphology in Children With Perinatal Onset Static Encephalopathy Completed NCT00769197
49 The Maternal Lifestyle Study Completed NCT00059540
50 Consequences of Circulating Antiangiogenic Factors Involved in Preeclampsia on Intra-uterine Growth Restricted Preterm Newborn Completed NCT01648855

Search NIH Clinical Center for Periventricular Leukomalacia

Cochrane evidence based reviews: leukomalacia, periventricular

Genetic Tests for Periventricular Leukomalacia

Anatomical Context for Periventricular Leukomalacia

MalaCards organs/tissues related to Periventricular Leukomalacia:

41
Brain, Heart, Lung, Skin, Cortex, Testes, Pineal

Publications for Periventricular Leukomalacia

Articles related to Periventricular Leukomalacia:

(show top 50) (show all 1950)
# Title Authors PMID Year
1
Altered nestin expression in the cerebrum with periventricular leukomalacia. 9 38
17352950 2007
2
Myelin transcription factor 1 (MyT1) immunoreactivity in infants with periventricular leukomalacia. 9 38
12524179 2003
3
Early detection of axonal and neuronal lesions in prenatal-onset periventricular leukomalacia. 9 38
9408595 1997
4
Cerebrospinal fluid of newborn infants contains a deglycosylated form of the intermediate filament nestin. 9 38
8947955 1996
5
Expression of beta-amyloid precursor protein in axons of periventricular leukomalacia brains. 9 38
8534283 1995
6
Visuo-haptic transfer for object recognition in children with periventricular leukomalacia and bilateral cerebral palsy. 38
31017037 2019
7
Altered neonatal white and gray matter microstructure is associated with neurodevelopmental impairments in very preterm infants with high-grade brain injury. 38
31212303 2019
8
Gastrostomy Tube Feeding in Extremely Low Birthweight Infants: Frequency, Associated Comorbidities, and Long-term Outcomes. 38
31427096 2019
9
<Omega>-3 PUFA Attenuates LPS-Induced Neuro-Injury of Neonatal Rats through the PI3K/AKT Pathway. 38
31260648 2019
10
In utero transplantation of neural stem cells ameliorates maternal inflammation-induced prenatal white matter injury. 38
30861185 2019
11
Utilization of neurosonography for evaluation of the corpus callosum malformations in the era of fetal magnetic resonance imaging. 38
31155818 2019
12
Outcomes after implementing restrictive blood transfusion criteria in extremely premature infants. 38
31222156 2019
13
Prophylactic Sildenafil in Preterm Infants at Risk of Bronchopulmonary Dysplasia: A Pilot Randomized, Double-Blinded, Placebo-Controlled Trial. 38
31414269 2019
14
Association between fetal sex, birthweight percentile and adverse pregnancy outcome. 38
31424085 2019
15
Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy. 38
31207089 2019
16
Clinical Significance of Asymmetric Minimum Intensity Projection Images of Brain Magnetic Resonance Imaging in Children. 38
31286707 2019
17
Corticotrophin-releasing hormone stimulation tests in late-onset circulatory collapse. 38
31281996 2019
18
Continuous Noninvasive Carbon Dioxide Monitoring in Neonates: From Theory to Standard of Care. 38
31248940 2019
19
Early Prediction of Periventricular Leukomalacia Using Quantitative Texture Analysis of Serial Cranial Ultrasound Scans in Very Preterm Infants. 38
31327491 2019
20
Predictors of Severe Neurologic Injury on Ultrasound Scan of the Head and Risk Factor-based Screening for Infants Born Preterm. 38
31377043 2019
21
Inositol in preterm infants at risk for or having respiratory distress syndrome. 38
31283839 2019
22
Neurodevelopmental outcomes at 2 and 5 years of age in very-low-birth-weight preterm infants born between 2002 and 2009: A prospective cohort study in Taiwan. 38
31278044 2019
23
Lipid emulsions for parenterally fed preterm infants. 38
31158919 2019
24
Short-term outcomes comparison between preterm infants with and without acute hypoxic respiratory failure attributable to presumed pulmonary hypoplasia after prolonged preterm premature rupture of membranes before 25 gestational weeks. 38
29279020 2019
25
Small for gestational age very preterm infants present a higher risk of developing bronchopulmonary dysplasia. 38
31256077 2019
26
Mortality rate-dependent variations in the survival without major morbidities rate of extremely preterm infants. 38
31089251 2019
27
Prevalence of metabolic syndrome-like in the follow-up of very low birth weight preterm infants and associated factors. 38
29705050 2019
28
Comparison of neonatal outcomes of very low birth weight infants by mode of conception: in vitro fertilization versus natural pregnancy. 38
30922644 2019
29
Corpus callosum and cerebellar vermis size in very preterm infants: Relationship to long-term neurodevelopmental outcome. 38
29910162 2019
30
Diagnostic challenges in congenital cytomegalovirus infection in pregnancy: A case report. 38
31192993 2019
31
Mode of delivery and mortality and morbidity for very preterm singleton infants in a breech position: A European cohort study. 38
30682601 2019
32
A novel image segmentation method for the evaluation of inflammation-induced cortical and hippocampal white matter injury in neonatal mice. 38
30586607 2019
33
Hypoxia of Rats Subjected to Carotid Artery Ligation Results in Impaired Neurogenesis and Reduced Number of Cortical Neurons. 38
30804123 2019
34
Cerebral regional tissue Oxygen Saturation to Guide Oxygen Delivery in preterm neonates during immediate transition after birth (COSGOD III): an investigator-initiated, randomized, multi-center, multi-national, clinical trial on additional cerebral tissue oxygen saturation monitoring combined with defined treatment guidelines versus standard monitoring and treatment as usual in premature infants during immediate transition: study protocol for a randomized controlled trial. 38
30894226 2019
35
Nucleated red blood cells and serum lactate values on days 2 and 5 are associated with mortality and morbidity in VLBW infants. 38
30084094 2019
36
Association Between Year of Birth and 1-Year Survival Among Extremely Preterm Infants in Sweden During 2004-2007 and 2014-2016. 38
30912837 2019
37
Bloody amniotic fluid during labor - Prevalence, and association with placental abruption, neonatal morbidity, and adverse pregnancy outcomes. 38
30682598 2019
38
Impact of mode of conception on neonatal and neurodevelopmental outcomes in preterm infants. 38
30496424 2019
39
Adequacy of antenatal steroids, rather than place of birth, determines survival to discharge in extreme prematurity in North Queensland. 38
30151906 2019
40
Morbidity and mortality of preterm infants less than 26 weeks of gestational age. 38
27405904 2019
41
Intentional early delivery versus expectant management for preterm premature rupture of membranes at 28-32 weeks' gestation: A multicentre randomized controlled trial (MICADO STUDY). 38
30553135 2019
42
Adjuvant 17-hydroxyprogesterone caproate in women with history-indicated cerclage: A systematic review and meta-analysis. 38
30339274 2019
43
[A multicenter epidemiological investigation of brain injury in hospitalized preterm infants in Anhui, China]. 38
30782271 2019
44
Predictors of Cranial Ultrasound Abnormalities in Intrauterine Growth-Restricted Fetuses Born between 28 and 34 Weeks of Gestation: A Prospective Cohort Study. 38
30045041 2019
45
The Impact of Early Neuroimaging and Developmental Assessment in a Preterm Infant Diagnosed with Cerebral Palsy. 38
30881719 2019
46
Glutamate Transport and Preterm Brain Injury. 38
31068830 2019
47
Perinatal outcome of monochorionic twin pregnancy complicated by selective fetal growth restriction according to management: systematic review and meta-analysis. 38
30207011 2019
48
Early inotropes use is associated with higher risk of death and/or severe brain injury in extremely premature infants. 38
30563374 2019
49
Effect of Milking Maneuver in Preterm Infants: A Randomized Controlled Trial. 38
29506014 2019
50
Neonatal cerebral lesions predict 2-year neurodevelopmental impairment in children treated with laser surgery for twin-twin transfusion syndrome. 38
28835143 2019

Variations for Periventricular Leukomalacia

ClinVar genetic disease variations for Periventricular Leukomalacia:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MCOLN1 NM_020533.3(MCOLN1): c.378C> G (p.Tyr126Ter) single nucleotide variant Likely pathogenic rs1057518782 19:7591465-7591465 19:7526579-7526579
2 MCOLN1 NM_020533.3(MCOLN1): c.777+1G> C single nucleotide variant Likely pathogenic rs1057518781 19:7592847-7592847 19:7527961-7527961
3 ARID1A NM_006015.6(ARID1A): c.5090A> G (p.Asp1697Gly) single nucleotide variant Likely pathogenic rs375761808 1:27102164-27102164 1:26775673-26775673
4 RPS6KC1 NM_001287219.2(RPS6KC1): c.2074G> A (p.Gly692Ser) single nucleotide variant Likely pathogenic rs61751035 1:213415529-213415529 1:213242186-213242186
5 RPS6KC1 deletion Likely pathogenic 1:213396378-213592823 :0-0
6 TMCO1 NM_019026.4(TMCO1): c.646_647del (p.Ala216fs) deletion Likely pathogenic 1:165697332-165697334 1:165728096-165728097
7 DNAH11 NM_001277115.2(DNAH11): c.10472G> A (p.Arg3491His) single nucleotide variant Uncertain significance rs370932895 7:21856224-21856224 7:21816606-21816606

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 TNF MCOLN1

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

# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.73 SLC1A2 NES MYT1 ARID1A
2 negative regulation of neurogenesis GO:0050768 9.4 TNF IL6
3 positive regulation of chemokine production GO:0032722 9.37 TNF IL6
4 positive regulation of glial cell proliferation GO:0060252 9.32 TNF IL6
5 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.26 TNF ALOX15
6 response to salt stress GO:0009651 9.16 TNF EPO
7 negative regulation of lipid storage GO:0010888 8.96 TNF IL6
8 positive regulation of neuroinflammatory response GO:0150078 8.62 TNF IL6

Sources for Periventricular Leukomalacia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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