Bronchopulmonary dysplasia

Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of infant acute respiratory distress syndrome (see these terms) in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring.



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Total: 148 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(61.9%)		 23401428
 Clinical report: Two patients with atelosteogenesis type I caused by missense mutations affecting the same FLNB residue.
Li BC, Hogue J, Eilers M, Mehrotra P, Hyland J, Holm T, Prosen T, Slavotinek AM.
Am J Med Genet A. 2013;161A(3):619-25.
Downslanted palpebral fissures Pectus excavatum Brachydactyly Broad thumb
FLNB
c|SUB|G|542|A c|SUB|G|542|C p|SUB|G|181|D p|SUB|G|181|R
Contractile Proteins Fatal Outcome Females Filamins Homo sapiens Infant, Newborn Male Microfilament Proteins Missense Mutation Osteochondrodysplasias Pregnancy Premature Birth Ultrasonography, Prenatal
2
(59.0%)		 3322008
 A patient with partial duplication 2q and partial deficiency 11q.
Ho CK, Henderson KC, Bowyer FP, Eilers KB, Andrews LG.
Am J Med Genet. 1987;28(3):575-9.
Micrognathia Short nose
Child, Preschool Chromosome Aberrations Chromosome Deletion Chromosomes, Human, Pair 11 Chromosomes, Human, Pair 2 Homo sapiens Infant Infant, Newborn Intellectual Disability Male Trisomy
3
(45.1%)		 22495892
(4495255)
 Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val.
Burkitt-Wright EM, Bradley L, Shorto J, McConnell VP, Gannon C, Firth HV, Park SM, D'Amore A, Munyard PF, Turnpenny PD, Charlton A, Wilson M, Kerr B.
Am J Med Genet A. 2012;158A(5):1102-10.
Anteverted nares Talipes
HRAS
p|SUB|G|12|C;RS#:104894229 p|SUB|G|12|D;RS#:104894230|727503094 p|SUB|G|12|V;RS#:104894230
Congenital Heart Defects Differential Diagnosis Genes, ras Homo sapiens INDEL Mutation Infant, Newborn
4
(40.9%)		 25288066
 [Yellow nail syndrome: two pediatric case reports].
Dessart P, Deries X, Guerin-Moreau M, Troussier F, Martin L.
Ann Dermatol Venereol. 2014;141(10):611-9.
Sinusitis
Bronchopulmonary Dysplasia Child Homo sapiens Hydrops Fetalis Infant, Premature, Diseases Lymphatic Abnormalities Male
5
(39.0%)		 24356613
 Extremely hypotrophic newborn of mother with systemic lupus erythematosus and antiphospholipid syndrome.
Mockova A, Dortova E, Dort J, Nahlovsky J, Korecko V, Ulcova-Gallova Z.
Lupus. 2014;23(3):313-8.
Microcephaly
Adult Antiphospholipid Syndrome Birth Weight Child Development Developmental Disabilities Epilepsy Females Gestational Age Homo sapiens Infant, Extremely Low Birth Weight Infant, Newborn Lupus Erythematosus, Systemic Male Pregnancy Pregnancy Complications Preterm Infant Time Factors Vasculitis, Central Nervous System
6
(33.7%)		 2244608
 Midfacial hypoplasia associated with long-term intubation for bronchopulmonary dysplasia.
Rotschild A, Dison PJ, Chitayat D, Solimano A.
Am J Dis Child. 1990;144(12):1302-6.
Long philtrum
Bronchopulmonary Dysplasia Face Females Gestational Age Homo sapiens Infant, Newborn Intubation, Intratracheal Male
7
(27.7%)		 23065651
 Mastication dyspraxia: a neurodevelopmental disorder reflecting disruption of the cerebellocerebral network involved in planned actions.
Marien P, Vidts A, Van Hecke W, De Surgeloose D, De Belder F, Parizel PM, Engelborghs S, De Deyn PP, Verhoeven J.
Cerebellum. 2013;12(2):277-89.
Hydrocephalus Impaired mastication
Apraxias Cerebellum Chewing Cognition Disorders Developmental Disabilities Homo sapiens Longitudinal Studies Magnetic Resonance Imaging Magnetic Resonance Spectroscopy Male Tomography, Emission-Computed, Single-Photon Young Adult
8
(21.2%)		 17378297
 [Withholding treatment in terminally-ill newborns with Islamic parents].
Westra AE, Smit BJ, Willems DL.
Ned Tijdschr Geneeskd. 2007;151(8):449-52.
Skeletal dysplasia
Decision Making Euthanasia, Passive Females Homo sapiens Infant, Newborn Neonatology Netherlands Pediatrics Withholding Treatment
9
(20.4%)		 8354321
 Ureaplasma urealyticum infection in newborns: three case reports.
Gjuric G, Prislin-Muskic M, Zurga B, Nikolic E, Cordasic R, Stanojevic M.
Eur J Pediatr. 1993;152(7):599-600.
Pneumonia Osteomyelitis
Bronchopulmonary Dysplasia Females Femur Homo sapiens Infant Infant, Newborn Male Osteomyelitis Pulmonary Fibrosis Ureaplasma Infections Ureaplasma urealyticum
10
(17.5%)		 26101982
 Fascicular Phrenic Nerve Neurotization for Restoring Physiological Motion in a Congenital Diaphragmatic Hernia Reconstruction With a Reverse Innervated Latissimus Dorsi Muscle Flap.
Horta R, Henriques-Coelho T, Costa J, Estevao-Costa J, Monteiro D, Dias M, Braga J, Silva A, Azevedo I, Amarante JM.
Ann Plast Surg. 2015;75(2):193-6.
Hernia
Child, Preschool Herniorrhaphy Homo sapiens Male Nerve Transfer Superficial Back Muscles
        

Phenotype(s) retrieved from Orphanet

    Total: 22

HPO ID Term Frequency
HP:0001518 Small for gestational age Very frequent (99-80%)
HP:0001622 Premature birth Very frequent (99-80%)
HP:0002088 Abnormal lung morphology Very frequent (99-80%)
HP:0002094 Dyspnea Very frequent (99-80%)
HP:0002097 Emphysema Very frequent (99-80%)
HP:0002098 Respiratory distress Very frequent (99-80%)
HP:0004887 Respiratory failure requiring assisted ventilation Very frequent (99-80%)
HP:0006528 Chronic lung disease Very frequent (99-80%)
HP:0012419 Hyperoxemia Very frequent (99-80%)
HP:0012735 Cough Very frequent (99-80%)
HP:0001667 Right ventricular hypertrophy Frequent (79-30%)
HP:0001708 Right ventricular failure Frequent (79-30%)
HP:0002360 Sleep disturbance Frequent (79-30%)
HP:0002795 Functional respiratory abnormality Frequent (79-30%)
HP:0002871 Central apnea Frequent (79-30%)
HP:0003546 Exercise intolerance Frequent (79-30%)
HP:0006597 Diaphragmatic paralysis Frequent (79-30%)
HP:0012252 Abnormal respiratory system morphology Frequent (79-30%)
HP:0030828 Wheezing Frequent (79-30%)
HP:0002786 Tracheobronchomalacia Occasional (29-5%)
HP:0100632 Pulmonary sequestration Occasional (29-5%)
HP:0100750 Atelectasis Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 77

HPO ID Term # of case reports
HP:0000822 Hypertension 11
HP:0002090 Pneumonia 8
HP:0002098 Respiratory distress 8
HP:0002878 Respiratory failure 8
HP:0002097 Emphysema 6
HP:0004387 Enterocolitis 6
HP:0030746 Intraventricular hemorrhage 4
HP:0000821 Hypothyroidism 3
HP:0100598 Pulmonary edema 3
HP:0100750 Atelectasis 3
HP:0001250 Seizures 2
HP:0001607 Subglottic stenosis 2
HP:0001622 Premature birth 2
HP:0001648 Cor pulmonale 2
HP:0001662 Bradycardia 2
HP:0002020 Gastroesophageal reflux 2
HP:0002093 Respiratory insufficiency 2
HP:0002104 Apnea 2
HP:0002107 Pneumothorax 2
HP:0005317 Increased pulmonary vascular resistance 2
HP:0010310 Chylothorax 2
HP:0012115 Hepatitis 2
HP:0030828 Wheezing 2
HP:0000076 Vesicoureteral reflux 1
HP:0000121 Nephrocalcinosis 1
HP:0000269 Prominent occiput 1
HP:0000347 Micrognathia 1
HP:0000369 Low-set ears 1
HP:0000488 Retinopathy 1
HP:0000737 Irritability 1
HP:0000787 Nephrolithiasis 1
HP:0001511 Intrauterine growth retardation 1
HP:0001601 Laryngomalacia 1
HP:0001602 Laryngeal stenosis 1
HP:0001638 Cardiomyopathy 1
HP:0001667 Right ventricular hypertrophy 1
HP:0001695 Cardiac arrest 1
HP:0001873 Thrombocytopenia 1
HP:0002072 Chorea 1
HP:0002089 Pulmonary hypoplasia 1
HP:0002110 Bronchiectasis 1
HP:0002155 Hypertriglyceridemia 1
HP:0002206 Pulmonary fibrosis 1
HP:0002575 Tracheoesophageal fistula 1
HP:0002612 Congenital hepatic fibrosis 1
HP:0002643 Neonatal respiratory distress 1
HP:0002652 Skeletal dysplasia 1
HP:0002719 Recurrent infections 1
HP:0002754 Osteomyelitis 1
HP:0002779 Tracheomalacia 1
HP:0002783 Recurrent lower respiratory tract infections 1
HP:0002835 Aspiration 1
HP:0002901 Hypocalcemia 1
HP:0002902 Hyponatremia 1
HP:0003124 Hypercholesterolemia 1
HP:0003196 Short nose 1
HP:0006515 Interstitial pneumonitis 1
HP:0006517 Alveolar proteinosis 1
HP:0007477 Abnormal dermatoglyphics 1
HP:0009800 Maternal diabetes 1
HP:0010307 Stridor 1
HP:0011950 Bronchiolitis 1
HP:0012382 Left-to-right shunt 1
HP:0012387 Bronchitis 1
HP:0025168 Left ventricular diastolic dysfunction 1
HP:0025356 Psychomotor retardation 1
HP:0025428 Bronchospasm 1
HP:0025491 Venous stenosis 1
HP:0030084 Clinodactyly 1
HP:0031834 Aortopulmonary collateral arteries 1
HP:0032092 Left ventricular outflow tract obstruction 1
HP:0032446 Pulmonary bulla 1
HP:0100021 Cerebral palsy 1
HP:0100520 Oliguria 1
HP:0100735 Hypertensive crisis 1
HP:0100790 Hernia 1
HP:0100806 Sepsis 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID