PVL
MCID: PRV004
MIFTS: 52

Periventricular Leukomalacia (PVL)

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Periventricular Leukomalacia

MalaCards integrated aliases for Periventricular Leukomalacia:

Name: Periventricular Leukomalacia 12 74 52 53 58 6 15 17
Leukomalacia, Periventricular 43 71
Leukomalacia Periventricular 54
Pvl 52

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:13088
ICD9CM 34 779.7
MeSH 43 D007969
NCIt 49 C99013
SNOMED-CT 67 230769007
ICD10 32 P91.2
MESH via Orphanet 44 D007969
UMLS via Orphanet 72 C0023529
Orphanet 58 ORPHA171676
UMLS 71 C0023529

Summaries for Periventricular Leukomalacia

NINDS : 53 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 cerebral palsy and chorioamnionitis. An important gene associated with Periventricular Leukomalacia is MYT1 (Myelin Transcription Factor 1), and among its related pathways/superpathways are Parkinson disease and Tuberculosis. 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 : 52 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 : 74 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 265)
# Related Disease Score Top Affiliating Genes
1 cerebral palsy 31.6 TNF SLC1A2 NOS2 IL6 IL18
2 chorioamnionitis 31.6 TNF IL6 IL18
3 brain injury 31.1 MBP IL6 EPO
4 perinatal necrotizing enterocolitis 30.8 TNF IL6 CPVL
5 preterm premature rupture of the membranes 30.7 TNF IL6 CPVL
6 acute cystitis 30.7 TNF IL6 IL18
7 aphthous stomatitis 30.5 TNF IL6 IL18
8 fasciitis 30.5 TNF IL6 IL18
9 proteasome-associated autoinflammatory syndrome 1 30.4 TNF NOS2 IL6 IL18
10 brain edema 30.3 SLC1A2 NOS2 IL6
11 toxic shock syndrome 30.1 TNF NOS2 IL6
12 hydrocephalus 29.9 TNF NES MBP IL18 EPO APP
13 pervasive developmental disorder 29.4 NES IL6 GRM1 APP
14 proliferative verrucous leukoplakia 11.8
15 congenital disorder of glycosylation with defective fucosylation 2 11.5
16 fetal indomethacin syndrome 11.5
17 spastic diplegia 10.8
18 quadriplegia 10.7
19 hydrocephalus, congenital, 1 10.7
20 external pathological resorption 10.6 TNF IL6
21 scorpion envenomation 10.6 TNF IL6
22 strabismus 10.6
23 spastic quadriplegia 10.6
24 mechanical strabismus 10.6
25 idiopathic anterior uveitis 10.6 TNF IL6
26 streptococcal toxic-shock syndrome 10.5 TNF IL6
27 angioimmunoblastic lymphadenopathy with dysproteinemia 10.5 TNF IL6
28 west syndrome 10.5
29 pre-eclampsia 10.5
30 vibrio vulnificus infection 10.5 IL6 EPO
31 patent ductus arteriosus 1 10.5
32 spastic cerebral palsy 10.5
33 hydrocephalus due to congenital stenosis of aqueduct of sylvius 10.5 NES MBP
34 systemic onset juvenile idiopathic arthritis 10.5 TNF IL18
35 pathologic nystagmus 10.5
36 bronchopulmonary dysplasia 10.5
37 encephalopathy 10.5
38 cerebral visual impairment 10.5
39 spotted fever rickettsiosis 10.4 TNF NOS2
40 exudative vitreoretinopathy 1 10.4
41 enterocolitis 10.4
42 hemiplegia 10.4
43 cerebral atrophy 10.4
44 middle ear disease 10.4 TNF IL6 DNAH11
45 transverse myelitis 10.4 TNF MBP IL6
46 myelitis 10.4 TNF MBP IL6
47 paranasal sinus disease 10.4 TNF IL6 DNAH11
48 iritis 10.4 TNF IL6 EPO
49 null-cell leukemia 10.4 TNF IL6
50 uremic pruritus 10.4 IL6 IL18

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:

45 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.39 ALOX15 APP ARID1A CPVL DNAH11 EPO
2 growth/size/body region MP:0005378 10.35 ALOX15 APP ARID1A DNAH11 GRM1 IL18
3 cellular MP:0005384 10.27 ALOX15 APP ARID1A DNAH11 EPO GRM1
4 cardiovascular system MP:0005385 10.25 ALOX15 APP ARID1A DNAH11 EPO IL18
5 mortality/aging MP:0010768 10.25 ALOX15 APP ARID1A CPVL DNAH11 EPO
6 hematopoietic system MP:0005397 10.2 ALOX15 APP ARID1A DNAH11 EPO IL18
7 immune system MP:0005387 10.18 ALOX15 APP ARID1A CPVL DNAH11 EPO
8 adipose tissue MP:0005375 10.07 GRM1 IL18 IL6 MCOLN1 NOS2 RPS6KC1
9 integument MP:0010771 10.07 ALOX15 APP CPVL EPO GRM1 IL18
10 muscle MP:0005369 10.03 APP ARID1A DNAH11 EPO GRM1 IL18
11 nervous system MP:0003631 9.97 ALOX15 APP ARID1A GRM1 IL18 IL6
12 reproductive system MP:0005389 9.7 ALOX15 APP ARID1A DNAH11 GRM1 IL6
13 vision/eye MP:0005391 9.28 ARID1A DNAH11 GRM1 IL18 IL6 MBP

Drugs & Therapeutics for Periventricular Leukomalacia

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

(show top 50) (show all 110)
# 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 Antiparkinson Agents Phase 4
7 Carbidopa, levodopa drug combination Phase 4
8 Dihydroxyphenylalanine Phase 4
9 Hematinics Phase 4
10 Epoetin alfa Phase 4 113427-24-0
11 Pharmaceutical Solutions Phase 4
12 Respiratory System Agents Phase 4
13 Anti-Asthmatic Agents Phase 4
14 Anti-Inflammatory Agents Phase 4
15 Hormones Phase 4
16 Pulmonary Surfactants Phase 4
17 Hormone Antagonists Phase 4
18 glucocorticoids Phase 4
19
Pentoxifylline Approved, Investigational Phase 3 6493-05-6 4740
20
Phenobarbital Approved, Investigational Phase 3 50-06-6 4763
21
Nitric Oxide Approved Phase 2, Phase 3 10102-43-9 145068
22
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
23 Tocolytic Agents Phase 3
24 Antibiotics, Antitubercular Phase 3
25 Anti-Arrhythmia Agents Phase 3
26 Anticonvulsants Phase 3
27 Anesthetics Phase 3
28 Calcium, Dietary Phase 3
29 calcium channel blockers Phase 3
30 Platelet Aggregation Inhibitors Phase 3
31 Radiation-Protective Agents Phase 3
32 Excitatory Amino Acid Antagonists Phase 3
33 Hypnotics and Sedatives Phase 3
34 GABA Modulators Phase 3
35 Antioxidants Phase 2, Phase 3
36 Vasodilator Agents Phase 2, Phase 3
37 Endothelium-Dependent Relaxing Factors Phase 2, Phase 3
38 Bronchodilator Agents Phase 2, Phase 3
39 Neurotransmitter Agents Phase 3
40 Protective Agents Phase 3
41 Acidophilus Phase 3
42 Dopamine Agents Phase 3
43 Cardiotonic Agents Phase 3
44 Sympathomimetics Phase 3
45
Calcium Nutraceutical Phase 3 7440-70-2 271
46
Cefotaxime Approved Phase 2 63527-52-6 5742673 456256
47
Ampicillin Approved, Vet_approved Phase 2 69-53-4 6249
48
Cefoxitin Approved Phase 2 35607-66-0 441199
49
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
50
Indomethacin Approved, Investigational Phase 1, Phase 2 53-86-1 3715

Interventional clinical trials:

(show top 50) (show all 88)
# 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 Active, not 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 Effect of Early Application of Recombinant Human Erythropoietin in Premature Infants on White Matter Lesions and Neurodevelopmental Outcome Unknown status NCT03110341 Phase 3 Erythropoietin;Normal saline
10 Magnesium Prevention of Brain Injury in Preterm Infants Unknown status NCT00065949 Phase 3 magnesium sulfate
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 Heat Loss Prevention in Delivery Room: a Prospective, Randomised, Controlled Trial of Polyethylene Caps in Very Preterm Infants Completed NCT00930917 Phase 3
14 Pentoxifylline Therapy of Late-onset Sepsis in Preterm Infants: A Randomized Controlled Trial. Completed NCT02163174 Phase 3 Pentoxifylline (PTX);Placebo
15 High Versus Low Dose of Caffeine for Apnea of Prematurity: A Double Blind Randomized Control Trial Completed NCT02103777 Phase 3 Caffeine citrate
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 Inhaled Nitric Oxide and Neuroprotection in Premature Infants Active, not recruiting NCT00515281 Phase 2, Phase 3 inhaled nitric oxide;oxygen
19 Clinical Trial for the Prevention of Premature Birth and Neonatal Related Morbidity Terminated NCT00303082 Phase 3 Lactobacillus rhamnosus GR1 and Lactobacillus reuteri RC-14
20 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 Terminated NCT01482559 Phase 3 Dopamine hydrochloride;Dextrose 5%
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 Antibiotic Effects on the Developing Microbiome, Metabolome and Morbidities in Preterm Neonates Completed NCT02784821 Phase 2 Antibiotic;Antibiotics - pre-emptive
23 Neuroprotective Effect of High Dose Erythropoietin in Very Preterm Infants Completed NCT00413946 Phase 2 Recombinant human Erythropoietin;saline
24 Safety of N-acetylcysteine in Maternal Chorioamnionitis Completed NCT00724594 Phase 1, Phase 2 N-acetylcysteine;Control
25 Indomethacin and Delayed Umbilical Cord Clamp for Preterm Infant IVH Active, not recruiting NCT02221219 Phase 1, Phase 2 Indomethacin;placebo infusion
26 Randomized Trial of Maternal Progesterone Therapy to Improve Neurodevelopmental Outcomes in Infants With Congenital Heart Disease Active, not 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 The Efficacy of LISA Technology With Noninvasive Ventilation in the Treatment of Respiratory Distress Syndrome in Preterm Neonates Not yet recruiting NCT04126382 Phase 2
30 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
31 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
32 S100B as a Marker of Brain Injury of Preterm Infants Unknown status NCT02082535
33 Corpus Callosum Size in Patients With Pineal Cyst Unknown status NCT03183427
34 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
35 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
36 Treatment of Hypotension of Prematurity: a Randomized, Non-blinded Cohort Clinical Trial Unknown status NCT01434251
37 Early Development of Sleep-wake Cycles in Premature Infants and Its Impact on Neurodevelopmental Outcome Unknown status NCT01774318
38 The Correlation of CO2 Measured by SenTec Transcutaneous Monitoring With Arterial Blood Gas CO2 Levels in Neonates Unknown status NCT03268395
39 Randomized Trial of Liberal Versus Restrictive Guidelines for Red Blood Cell Transfusion in Preterm Infants Completed NCT00369005
40 Telerehabilitation of Working Memory in Children With Periventricular Leukomalacia and Bilateral Cerebral Palsy, a Neuropsychological and Electrophysiological (High-density EEG) Study Completed NCT02342990
41 In Utero Magnesium Sulfate Exposure: Effects on Extremely-Low-Birth-Weight (ELBW) Infants Completed NCT01203501
42 Minimal Invasive Surfactant Administration to Treat Neonatal Respiratory Distress Syndrome: a Multicenter Clinical Study in China Completed NCT04077333
43 Umbilical Cord Blood Proteomic Analysis and Neonatal Brain Injury Completed NCT00375908
44 Effects of Single-session Transcranial Direct Current Stimulation in Children With Cerebral Palsy Completed NCT03635775
45 Placental Transfusion in Preterm Infants Born at Less Than 34 Weeks of Gestation … Role of "Delayed" Cord Clamping and Umbilical Cord Milking Completed NCT02400697
46 Neonatal Outcome by Reason for Delivery - A Prospective, Observational Study Completed NCT01818518
47 Laryngeal Mask Airway (LMA) for Surfactant Administration in Neonates Completed NCT01116921 Surfactants, Pulmonary
48 Assessment of Autonomic Maturation in Neonatal Period and Early Neural Development From a Longitudinal Prospective Cohort : the AuBE Study Completed NCT00951860
49 A Study to Determine If Inflammatory Cytokines Are Associated With Perinatal Brain Injury and Long Term Neurodevelopmental Handicap or Death Completed NCT01035697
50 Intraumbilical Amino Acids and Glucose Supplementation Via Subcutaneously Implanted Port System by Severe IUGR Human Fetuses Completed NCT02596594

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:

40
Brain, Heart, Lung, Skin, Cortex, Testes, Pineal

Publications for Periventricular Leukomalacia

Articles related to Periventricular Leukomalacia:

(show top 50) (show all 2031)
# Title Authors PMID Year
1
Altered nestin expression in the cerebrum with periventricular leukomalacia. 61 54
17352950 2007
2
Myelin transcription factor 1 (MyT1) immunoreactivity in infants with periventricular leukomalacia. 61 54
12524179 2003
3
Early detection of axonal and neuronal lesions in prenatal-onset periventricular leukomalacia. 54 61
9408595 1997
4
Cerebrospinal fluid of newborn infants contains a deglycosylated form of the intermediate filament nestin. 54 61
8947955 1996
5
Expression of beta-amyloid precursor protein in axons of periventricular leukomalacia brains. 61 54
8534283 1995
6
GPR17 plays a role in ischemia-induced endogenous repair of immature neonatal cerebral White matter. 61
32387084 2020
7
Phenotypic characterization of COL4A1-related West syndrome. 61
32446163 2020
8
Neonatal care bundles are associated with a reduction in the incidence of intraventricular haemorrhage in preterm infants: a multicentre cohort study. 61
31732682 2020
9
The effects of latency period in PPROM cases managed expectantly. 61
32089027 2020
10
Diagnosis of rhomboencephalosynapsis by MRI in a 5-year-old child. 61
32382369 2020
11
Neurodevelopmental impairment in necrotising enterocolitis survivors: systematic review and meta-analysis. 61
31801792 2020
12
[Effect of pranlukast on neonatal rats with periventricular leukomalacia]. 61
32571468 2020
13
Robot-assisted gait training using a very small-sized Hybrid Assistive Limb® for pediatric cerebral palsy: A case report. 61
32249081 2020
14
Antenatal corticosteroids and preterm offspring outcomes in hypertensive disorders of pregnancy: A Japanese cohort study. 61
32518309 2020
15
Perinatal outcomes of intrauterine transfusion for the surviving twin in monochorionic twin gestation involving a single fetal demise. 61
32484289 2020
16
Antenatal Corticosteroids and Outcomes in Preterm Twins. 61
32459431 2020
17
Utility of ultrasound assessment in management of pregnancies with preterm prelabor rupture of membranes. 61
31332850 2020
18
Survival Without Major Morbidity Among Very Low Birth Weight Infants in California. 61
32554813 2020
19
Cerebral Insufficiency Caused by Diazoxide in a Premature Neonate with Congenital Hyperinsulinism. 61
31777044 2020
20
Characterization of Fetal Brain Damage in Early Abortions of Ovine Toxoplasmosis. 61
32406321 2020
21
Mesenchymal stem cell-derived secretomes for therapeutic potential of premature infant diseases. 61
32320046 2020
22
Postnatal steroid therapy is associated with autism spectrum disorder in children and adolescents of very low birth weight infants. 61
31791046 2020
23
Trends in Perinatal Practices and Neonatal Outcomes of VLBW Infants during a 16-year Period at NEOCOSUR Centers. 61
32454113 2020
24
Neonatal outcomes of extremely preterm twins by sex pairing: an international cohort study. 61
32451356 2020
25
Prenatal diagnosis of central nervous system abnormalities: Neurosonography versus fetal magnetic resonance imaging. 61
32460228 2020
26
Histologic chorioamnionitis concomitant placental abruption and its effects on pregnancy outcome. 61
32421533 2020
27
Distinguishing Encephaloclastic Lesions Resulting From Primary or Secondary Pyruvate Dehydrogenase Deficiency From Other Neonatal or Infantile Cavitary Brain Lesions. 61
31542992 2020
28
Neonatal Intensive Care Unit-Level Patent Ductus Arteriosus Treatment Rates and Outcomes in Infants Born Extremely Preterm. 61
32145968 2020
29
Cranial Ultrasound and Minor Motor Abnormalities at 2 Years in Extremely Low Gestational Age Infants. 61
31880687 2020
30
The Influence of the Variation in Sepsis Rate between Neonatal Intensive Care Units on Neonatal Outcomes in Very-Low-Birth-Weight Infants. 61
32317733 2020
31
Neuropathology of Congenital Heart Disease in an Inpatient Autopsy Cohort 2000-2017. 61
32200729 2020
32
Neonatal white matter damage and the fetal inflammatory response. 61
32299712 2020
33
The most useful cranial ultrasound predictor of neurodevelopmental outcome at 2 years for preterm infants. 61
31870490 2020
34
Reducing post-extubation failure rates in very preterm infants: is BiPAP better than CPAP? 61
32223486 2020
35
A transcranial magnetic stimulation study for the investigation of corticospinal motor pathways in children with cerebral palsy. 61
32334959 2020
36
Adverse maternal and neonatal outcomes among women with preeclampsia with severe features <34 weeks gestation with versus without comorbidity. 61
32193149 2020
37
Periventricular Leukomalacia in Patients With Pseudo-glaucomatous Cupping. 61
31647930 2020
38
Reevaluating 30-day head ultrasound screening for preterm infants in the era of decreasing periventricular leukomalacia. 61
32146832 2020
39
Early predictors of perinatal brain damage: the role of neurobiomarkers. 61
31851609 2020
40
Preterm white matter injury: ultrasound diagnosis and classification. 61
32218534 2020
41
State-of-the-art neonatal cerebral ultrasound: technique and reporting. 61
32218539 2020
42
The Incidence and Severity of Hypocarbia in Neonates Undergoing General Anesthesia. 61
32184375 2020
43
Characteristics and influence of Mycoplasma/Ureaplasma cultures in amniotic fluid on perinatal outcomes. 61
31883200 2020
44
Enteral lactoferrin supplementation for prevention of sepsis and necrotizing enterocolitis in preterm infants. 61
32232984 2020
45
Neonatal Outcomes Following Culture-negative Late-onset Sepsis Among Preterm Infants. 61
32032307 2020
46
The effect of meconium thickness level on neonatal outcome. 61
31935610 2020
47
Epidemiology and microbiology of late-onset sepsis among preterm infants in China, 2015-2018: A cohort study. 61
32209419 2020
48
Use of Lipids in Neonates Requiring Parenteral Nutrition. 61
32049399 2020
49
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. 61
31278044 2020
50
Less invasive surfactant administration in preterm infants with respiratory distress syndrome-an updated meta-analysis. 61
31834026 2020

Variations for Periventricular Leukomalacia

ClinVar genetic disease variations for Periventricular Leukomalacia:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RPS6KC1 NM_012424.6(RPS6KC1):c.2710G>A (p.Gly904Ser)SNV Likely pathogenic 242892 rs61751035 1:213415529-213415529 1:213242186-213242186
2 RPS6KC1 deletion Likely pathogenic 242893 1:213396378-213592823
3 MCOLN1 NM_020533.3(MCOLN1):c.378C>G (p.Tyr126Ter)SNV Likely pathogenic 373936 rs1057518782 19:7591465-7591465 19:7526579-7526579
4 MCOLN1 NM_020533.3(MCOLN1):c.777+1G>CSNV Likely pathogenic 373935 rs1057518781 19:7592847-7592847 19:7527961-7527961
5 ARID1A NM_006015.6(ARID1A):c.5090A>G (p.Asp1697Gly)SNV Likely pathogenic 523488 rs375761808 1:27102164-27102164 1:26775673-26775673
6 TMCO1 NM_019026.4(TMCO1):c.646_647del (p.Ala216fs)deletion Likely pathogenic 598949 rs1558027212 1:165697333-165697334 1:165728096-165728097
7 DNAH11 NM_001277115.2(DNAH11):c.10472G>A (p.Arg3491His)SNV Uncertain significance 198347 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

Pathways related to Periventricular Leukomalacia according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.98 TNF SLC1A2 NOS2 IL6 DNAH11 APP
2 12.03 TNF NOS2 IL6 IL18
3 11.69 TNF IL6 IL18
4 11.58 TNF NOS2 IL6
5 11.54 TNF NOS2 MBP IL6
6
Show member pathways
11.49 TNF NOS2 IL6
7 11.43 TNF IL6 IL18
8 11.33 TNF IL6 IL18
9 11.3 TNF IL6 IL18
10 11.29 PDHA1 NOS2 IL6 EPO
11 11.26 TNF NOS2 IL18
12 11.11 PDHA1 NOS2 EPO
13 11.08 TNF NOS2 IL6 IL18 ALOX15
14 11.07 TNF IL6 IL18
15 10.94 TNF IL6 IL18

GO Terms for Periventricular Leukomalacia

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.96 SLC1A2 NES MYT1 ARID1A APP
2 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.73 TNF EPO APP ALOX15
3 inflammatory response GO:0006954 9.72 TNF NOS2 IL6 IL18 ALOX15
4 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.71 TNF IL6 APP
5 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.7 TNF IL18 EPO
6 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.58 TNF IL18 APP
7 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.56 TNF IL6 IL18 APP
8 positive regulation of chemokine biosynthetic process GO:0045080 9.55 TNF APP
9 cytokine-mediated signaling pathway GO:0019221 9.55 TNF NOS2 IL6 IL18 ALOX15
10 positive regulation of smooth muscle cell proliferation GO:0048661 9.54 TNF IL6 IL18
11 positive regulation of chemokine (C-X-C motif) ligand 2 production GO:2000343 9.51 TNF MBP
12 negative regulation of lipid storage GO:0010888 9.49 TNF IL6
13 response to salt stress GO:0009651 9.48 TNF EPO
14 positive regulation of interleukin-1 beta biosynthetic process GO:0050725 9.46 TNF APP
15 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.26 TNF IL6 IL18 EPO
16 positive regulation of neuroinflammatory response GO:0150078 8.8 TNF IL6 IL18

Molecular functions related to Periventricular Leukomalacia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 8.92 TNF IL6 IL18 EPO

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 HMDB
31 HPO
32 ICD10
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45 MGI
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61 PubMed
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