Cyanosis, Transient Neonatal (TNCY)

Categories: Blood diseases, Fetal diseases, Genetic diseases

Aliases & Classifications for Cyanosis, Transient Neonatal

MalaCards integrated aliases for Cyanosis, Transient Neonatal:

Name: Cyanosis, Transient Neonatal 57 29 13 6 40 72
Cyanosis 44 33
Tncy 57 74
Cyanosis Transient Neonatal 74



autosomal dominant

onset at birth
spontaneously resolves by 5 to 6 months of age


cyanosis, transient neonatal:
Inheritance autosomal dominant inheritance
Onset and clinical course congenital onset


External Ids:

OMIM 57 613977
MeSH 44 D003490
ICD10 33 R23.0
MedGen 42 C3151421
UMLS 72 C3151421

Summaries for Cyanosis, Transient Neonatal

OMIM : 57 Neonatal cyanosis is characterized by symptoms in the fetus and neonate that gradually abate by 5 to 6 months of age. The disorder is caused by a defect in the fetal hemoglobin chain, which causes reduced affinity for oxygen due to steric inhibition of oxygen binding and/or due to increased oxidation of the fetal hemoglobin molecule to methemoglobin (Hb FM), which has decreased oxygen-binding capacity. Some patients develop anemia resulting from increased destruction of red cells containing abnormal or unstable hemoglobin. The cyanosis resolves spontaneously by 5 to 6 months of age or earlier, as the adult beta-globin chain (HBB; 141900) is produced and replaces the fetal gamma-globin chain (summary by Crowley et al., 2011). (613977)

MalaCards based summary : Cyanosis, Transient Neonatal, also known as cyanosis, is related to cyanosis and hepatic disease and rombo syndrome, and has symptoms including cyanosis An important gene associated with Cyanosis, Transient Neonatal is HBG2 (Hemoglobin Subunit Gamma 2). The drugs Sodium citrate and Amoxicillin have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and liver, and related phenotypes are hepatomegaly and anemia

UniProtKB/Swiss-Prot : 74 Cyanosis transient neonatal: A disorder characterized by cyanosis in the fetus and neonate, due to a defect in the fetal hemoglobin chain which has reduced affinity for oxygen. Some patients develop anemia resulting from increased destruction of red cells containing abnormal or unstable hemoglobin. The cyanosis resolves spontaneously by 5 to 6 months of age or earlier, as the adult beta-globin chain is produced and replaces the fetal gamma-globin chain.

Related Diseases for Cyanosis, Transient Neonatal

Diseases related to Cyanosis, Transient Neonatal via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 273)
# Related Disease Score Top Affiliating Genes
1 cyanosis and hepatic disease 12.4
2 rombo syndrome 12.0
3 hereditary methemoglobinemia 11.7
4 methemoglobinemia due to deficiency of methemoglobin reductase 11.7
5 tetralogy of fallot 11.6
6 hemoglobinopathy toms river 11.6
7 methemoglobinemia, beta-globin type 11.5
8 heart disease 11.4
9 transposition of the great arteries 11.4
10 eisenmenger syndrome 11.4
11 heterotaxy 11.4
12 sulfhemoglobinemia 11.4
13 tricuspid atresia 11.3
14 pulmonary venous return anomaly 11.3
15 buerger disease 11.3
16 alveolar capillary dysplasia with misalignment of pulmonary veins 11.3
17 central hypoventilation syndrome, congenital 11.3
18 methemoglobinemia, beta type 11.2
19 methemoglobinemia, alpha type 11.2
20 arterial calcification of infancy 11.2
21 pulmonary atresia with intact ventricular septum 11.2
22 seizures, benign familial infantile, 1 11.2
23 acrocephalopolysyndactyly type iii 11.0
24 emphysema, congenital lobar 11.0
25 laryngomalacia 11.0
26 pulmonary fibrosis, idiopathic 11.0
27 neuropathy, hereditary sensory and autonomic, type iii 11.0
28 methemoglobinemia and ambiguous genitalia 11.0
29 obesity-hypoventilation syndrome 11.0
30 glycogen storage disease of heart, lethal congenital 11.0
31 lymphangiectasia, pulmonary, congenital 11.0
32 hypomagnesemia 1, intestinal 11.0
33 pulmonary alveolar proteinosis, acquired 11.0
34 pitt-hopkins syndrome 11.0
35 reynolds syndrome 11.0
36 episodic pain syndrome, familial, 1 11.0
37 chronic mountain sickness 11.0
38 hypoplastic right heart syndrome 11.0
39 esophageal atresia/tracheoesophageal fistula 11.0
40 silicosis 11.0
41 severe pre-eclampsia 11.0
42 blue toe syndrome 11.0
43 congenital myasthenic syndrome 11.0
44 pulmonary venoocclusive disease 11.0
45 congenital laryngeal palsy 11.0
46 infantile apnea 11.0
47 right ventricle hypoplasia 11.0
48 tracheal agenesis 11.0
49 critical congenital heart disease 11.0
50 univentricular heart 11.0

Graphical network of the top 20 diseases related to Cyanosis, Transient Neonatal:

Diseases related to Cyanosis, Transient Neonatal

Symptoms & Phenotypes for Cyanosis, Transient Neonatal

Human phenotypes related to Cyanosis, Transient Neonatal:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 hepatomegaly 32 occasional (7.5%) HP:0002240
2 anemia 32 occasional (7.5%) HP:0001903
3 jaundice 32 occasional (7.5%) HP:0000952
4 reticulocytosis 32 occasional (7.5%) HP:0001923
5 cyanosis 32 HP:0000961
6 methemoglobinemia 32 HP:0012119

Symptoms via clinical synopsis from OMIM:

Skin Nails Hair Skin:
jaundice (in some)

Abdomen Liver:
hepatomegaly (in some)

Laboratory Abnormalities:

decreased oxygen-binding capacity of hemoglobin
decreased hemoglobin oxygen saturation
anemia (in some)
reticulocytosis (in some)

Clinical features from OMIM:


UMLS symptoms related to Cyanosis, Transient Neonatal:


Drugs & Therapeutics for Cyanosis, Transient Neonatal

Drugs for Cyanosis, Transient Neonatal (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 162)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Sodium citrate Approved, Investigational Phase 4 68-04-2
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
Caffeine Approved Phase 4 58-08-2 2519
Clavulanate Approved, Vet_approved Phase 4 58001-44-8 5280980
Ceftriaxone Approved Phase 4 73384-59-5 5479530 5361919
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
Metoclopramide Approved, Investigational Phase 4 364-62-5 4168
Clindamycin Approved, Vet_approved Phase 4 18323-44-9 29029
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
11 Anticoagulants Phase 4
12 Citrate Phase 4
13 Phosphodiesterase Inhibitors Phase 4
14 Nutrients Phase 4
15 Micronutrients Phase 4
16 Trace Elements Phase 4
17 Calcium, Dietary Phase 4
18 Antibiotics, Antitubercular Phase 4
19 Central Nervous System Stimulants Phase 4
20 Purinergic P1 Receptor Antagonists Phase 4
21 Caffeine citrate Phase 4
22 Fat Emulsions, Intravenous Phase 4
23 Parenteral Nutrition Solutions Phase 4
24 Soy Bean Phase 4
25 Antitubercular Agents Phase 4
26 Amoxicillin-Potassium Clavulanate Combination Phase 4
27 beta-Lactamase Inhibitors Phase 4
28 Gentamicins Phase 4
29 Anti-Bacterial Agents Phase 4
30 Anti-Infective Agents Phase 4
31 Pharmaceutical Solutions Phase 4
32 Dopamine Agents Phase 4
33 Dopamine Antagonists Phase 4
34 Dopamine D2 Receptor Antagonists Phase 4
35 Clindamycin palmitate Phase 4
36 Clindamycin phosphate Phase 4
37 Neurotransmitter Agents Phase 4
38 Adrenergic Agonists Phase 4
39 Peripheral Nervous System Agents Phase 4
40 Adrenergic beta-Agonists Phase 4
41 Adrenergic Agents Phase 4
42 Autonomic Agents Phase 4
43 Albuterol Phase 4
44 Respiratory System Agents Phase 4
45 Tocolytic Agents Phase 4
46 Adrenergic beta-2 Receptor Agonists Phase 4
47 Anti-Asthmatic Agents Phase 4
48 Bronchodilator Agents Phase 4
Enalapril Approved, Vet_approved Phase 3 75847-73-3 5362032 40466924
Enalaprilat Approved Phase 3 76420-72-9 6917719

Interventional clinical trials:

(show top 50) (show all 88)
# Name Status NCT ID Phase Drugs
1 Magnetic Resonance Imaging and Neurodevelopmental Outcomes in Preterm Infants Following Administration of High-Dose Caffeine - A Pilot Study Completed NCT00809055 Phase 4 Caffeine citrate
2 The Effects of Two Different Intravenous Lipid Emulsions on the Outcomes of Preterm Infants With Sepsis: a Randomized Pilot Controlled Trial Completed NCT03275090 Phase 4 Smoflipid ®
3 Pneumonia in Children: Aetiology, Ideal Antibiotic Duration, Quality of Life Completed NCT02258763 Phase 4 Amoxicillin-Potassium Clavulanate Combination;Placebo
4 Randomized, Controlled Clinical Trial of Day-care Based and Hospitalized Management of Severe and Very Severe Pneumonia, With Severe Malnutrition, With/Without Associated Co-morbidities in Children Completed NCT00968370 Phase 4
5 Use of Metoclopramide for the Prevention of Gastroesophageal Reflux in Premature Infants Followed in an Outpatient Kangaroo Mother Care Clinic Before 40 Weeks of Gestational Age: A Randomized Controlled Trial Recruiting NCT02907632 Phase 4 Metoclopramide;Placebo
6 A Randomized Clinical Trial Between Clindamycin Once and Thrice a Day in Septic Abortion. Recruiting NCT02309346 Phase 4 Clindamycin
7 A Prospective Study on the Use of Hypertonic Saline Inhalation in Acute Bronchiolitis in Children Not yet recruiting NCT03880903 Phase 4 normal saline and salbutamol;hypertonic saline and salbutamol;Hypertonic saline
8 Trial of ACE Inhibition in Infants With Single Ventricle (A Trial Conducted by the Pediatric Heart Network) Completed NCT00113087 Phase 3 Enalapril;Placebo
9 Combination Treatment With Bosentan and Sildenafil to Patients With Eisenmengers Syndrome Completed NCT00303004 Phase 3 Bosentan and Sildenafil
10 NEWBORN VENTILATION IN THE DELIVERY ROOM: CAN IT BE IMPROVED WITH A T-PIECE RESUSCITATOR? Multicenter Cross-over Cluster Randomized Controlled Trial Completed NCT00443118 Phase 3
11 Efficacy, Tolerability and Biology of a Rho-kinase Inhibitor (Fasudil) in the Treatment of Raynaud's Phenomenon Completed NCT00498615 Phase 3 Fasudil
12 " Ilomedin for Treatment of Septic Shock With Persistent Microperfusion Defects ", a Double-blind, Randomized Controlled Trial:The I-MICRO Trial Not yet recruiting NCT03788837 Phase 3 Ilomedin;NaCl
13 Safety and Efficacy of Umbilical Cord Mesenchymal Stem Cell Injection for Diabetes Secondary Peripheral Arterial Disease Unknown status NCT02287831 Phase 1, Phase 2
14 Solar Powered Oxygen Delivery: An Open-label Non-inferiority Comparison to Standard Oxygen Delivery Using Oxygen Cylinders Completed NCT02100865 Phase 2
15 Determination of Nitrite as a Source of Bioactive Nitric Oxide in Human Subjects Completed NCT00048477 Phase 2 L-NMMA and Sodium Nitrite
16 Effects of Melatonin as a Novel Antioxidant and Free Radicals Scavenger in Neonatal Sepsis Completed NCT03295162 Phase 1, Phase 2 Melatonin 10 mg
17 Erythropoietin to Prevent Unnecessary Transfusions In Patients With Cyanotic Congenital Heart Disease - A Prospective Randomized Control Trial Recruiting NCT02564796 Phase 2 Epoetin Alfa and Iron
18 RIGENERA 2.0 (Recupero Dall'Infarto Miocardico Con G-CSF E Nuovi Esempi di Rigenerazione Avanzata) Project: "The Combined Effect of Subcutaneous Granulocyte - Colony Stimulating Factor and Myocardial Contrast Echocardiography With Intravenous Infusion of Sulphur Hexafluoride on Post-infarction Left Ventricular Function" Suspended NCT02502747 Phase 2 rhu G-CSF;optimal standard of care
19 Impact of Early Enteral Feeding on Splanchnic Blood Flow After Surgery for Critical Heart Disease in the Newborn Terminated NCT00919945 Phase 2
20 Feasibility and Efficacy Of Negative Pressure Ventilation in Fontan populatioN: Cardiovascular Flow Assessment by Magnetic Resonance Imaging Completed NCT03251742 Phase 1
21 A Study of the Pharmacokinetics of Primaquine in Lactating Women and Breastfed Infants for the Radical Treatment of Uncomplicated Maternal P. Vivax Completed NCT01780753 Phase 1 Primaquine
22 Dynamics of the Immune Response in Children to the 23-valent Pneumococcal Capsular Polysaccharide Vaccine (Pneumovax) Completed NCT03460730 Phase 1
23 Steroid Therapy in Acute Bronchiolitis A New Old Line of Therapy. Not yet recruiting NCT03436225 Phase 1 Dexamethasone orally.;Dexamethasone parenteral.;Inhaled nebulized Budesonide.;Inhaled nebulized salbutamol.
24 Pulse Oximetry With Clinical Observation to Screen for Lung Disease in Neonates Unknown status NCT02533583
25 CA-125 and Severity of Pre-Eclampsia Unknown status NCT02704676
26 Long-term Effects on Pulmonary Function in Post- Fontan Operation Unknown status NCT01413308
27 Aerobic Exercise Increases Phosphate Removal During Hemodialysis Unknown status NCT01912417
28 Effects of Iloprost Treatment in Adult Patients With Pulmonary Arterial Hypertension Related to Congenital Heart Disease (Eisenmenger Physiology): Safety, Tolerability, Clinical, and Hemodynamic Effect. Unknown status NCT01383083
29 Detection of Pleural Effusion by Internal Thoracic Impedance Method Unknown status NCT01601444
30 Salbutamol in the Pediatric Emergencies: Nebulization Estimated Via AerogeN or Jet Unknown status NCT03042065
31 Effect of Remote Ischemic Preconditioning on Children Undergoing Cardiac Surgery: Implication of Preoperative Cyanosis Completed NCT01311310
32 Accuracy Assessment of 7 Clinical Indicators in Newborn Screening for Congenital Heart Disease Completed NCT01665261
33 Laryngomalacia Exposed Completed NCT01042223
34 Tranexamic Acid Reduces Blood Loss in Pediatric Cardiac Surgery Completed NCT00994994 Tranexamic Acid
35 ST2, a Novel Biomarker for Cardiac Remodeling in Adults With Congenital Heart Disease Completed NCT01774890
36 Retrospective Review of Neonates With Neurological Complications Following Cardiac Surgery Completed NCT00366561
37 The Effect of Remote Ischemic Preconditioning on the Ischemic Reperfusion Injury in Infants With Ventricular Septal Defect and Pulmonary Hypertension Completed NCT01313832
38 Neuromuscular Electrical Stimulation Improves Exercise Tolerance in Patients With Advanced Heart Failure on Continuous Dobutamine Use - A Randomized Controlled Trial Completed NCT02668419
39 Sleep-disordered Breathing in Eisenmenger Syndrome Completed NCT02614417
40 Use of Bubble CPAP Compared to Nasal Prong Oxygen or Humidified High Flow in Children Under Five With Severe Pneumonia and Hypoxaemia: a Randomized Trial Completed NCT01396759
41 Efficacy of Aquatic Physiotherapy in Stress Level and Muscle Tone of Children Between 3 and 24 Months With Microcephaly by Zika Virus Congenital Syndrome Completed NCT03330600
42 Short-term Effect of Slow Expiratory Techniques for Mucociliary Clearance for Clinical Improvement in Children Not Hospitalized With Mild and Moderate Bronchiolitis: Multicentre Study Completed NCT03835858
43 Assessment of Clinical Competence of Medical Students: a Comparison of High-fidelity Simulation, Serious Game and Multiple-choice Questions Completed NCT03884114
44 Neurodevelopmental Outcomes and Postoperative Hemodynamics in Children With Hypoplastic Left Heart Syndrome Completed NCT00464100
45 Intestinal Function in Neonates With Complex Congenital Heart Disease Completed NCT01475357
46 The Effect of Vest Type Dynamic Elastomeric Fabric Orthosis (DEFO) on Sitting Balance and Gross Manuel Dexterity in Children With Bilateral Cerebral Palsy: A Feasibility and Randomized, Single-blinded, Pilot Study Completed NCT03191552
47 A Randomized, Single-blinded Placebo-controlled Trial of Ischemic Preconditioning in Raynaud's Phenomenon (RP) Completed NCT02506062
48 Effects of Compression in Mixed Ulcers Completed NCT02838251
49 Mucociliary Clearance Techniques vs. High Frequency Compression of the Thoracic Wall in Children Not Hospitalized With Mild and Moderate Bronchiolitis: A Randomized Clinical Trial Completed NCT03835936
50 Methemoglobin Levels in Generally Anesthetized Pediatric Dental Patients Receiving Prilocaine Versus Lidocaine Completed NCT01402869 4% prilocaine plain;2% Lidocaine with 1:100,000 epinephrine

Search NIH Clinical Center for Cyanosis, Transient Neonatal

Cochrane evidence based reviews: cyanosis

Genetic Tests for Cyanosis, Transient Neonatal

Genetic tests related to Cyanosis, Transient Neonatal:

# Genetic test Affiliating Genes
1 Cyanosis, Transient Neonatal 29 HBG2

Anatomical Context for Cyanosis, Transient Neonatal

MalaCards organs/tissues related to Cyanosis, Transient Neonatal:

Heart, Lung, Liver, Skin, Testes, Brain, Kidney

Publications for Cyanosis, Transient Neonatal

Articles related to Cyanosis, Transient Neonatal:

(show top 50) (show all 5584)
# Title Authors PMID Year
A hemoglobin variant associated with neonatal cyanosis and anemia. 38 8 71
21561349 2011
Neonatal cyanosis due to a novel fetal hemoglobin: Hb F-Circleville [Ggamma63(E7)His-->Leu, CAT>CTT]. 38 8 71
19065339 2008
A new case of Hb F-M-Osaka [G gamma 63(E7)His-->Tyr] showed only benign neonatal cyanosis. 38 8 71
8811323 1996
Hemoglobin F-Cincinnati, alpha 2G gamma 2 41(C7) Phe-->Ser in a newborn with cyanosis. 38 8 71
7741137 1995
Mutant fetal hemoglobin causing cyanosis in a newborn. 38 8 71
2470017 1989
Hb F-M-Osaka [Ggamma63(E7)His --> tyr] in a newborn from southwest France. 8 71
12603090 2003
Hemoglobin FM-Fort Ripley: another lesson from the neonate. 8 71
2470018 1989
Hb F-M-Osaka or alpha 2G gamma 2(63)(E7)His----Tyr in a Caucasian male infant. 8 71
2483933 1989
A new abnormal fetal hemoglobin, Hb FM-Osaka (alpha 2 gamma 2 63His replaced by Tyr). 8 71
6158500 1980
Asymptomatic congenital tracheal stenosis. 38
31388427 2019
Noninvasive Monitoring and Assessment of Oxygenation in Infants. 38
31345538 2019
Validation of the British Thoracic Society Severity Criteria for Pediatric Community-acquired Pneumonia. 38
31232897 2019
Pulmonary Artery Obstruction by Idiopathic Calcification Causing Sudden Collapse in a Neonate. 38
30684481 2019
[Vascular rings. Series of 28 patients of a Pediatrie Respiratory Endoscopy Department]. 38
31339282 2019
Hereditary methemoglobinemia caused by Hb M-Hyde Park (Hb M-Akita) (HBB:c.277C > T; p.His93Tyr). 38
31267164 2019
To compare nasal mask with binasal prongs in delivering continuous positive airway pressure for reducing need of invasive ventilation: randomized controlled trial. 38
31394955 2019
Saline Contrast Transesophageal Echocardiography in Fontan Patients: Assessment of the Presence, Type, and Size of Right to Left Shunts. 38
31218373 2019
[Clinical analysis of methylmalonic acidemia and hyperhomocysteinemia with diffuse lung disease as an initial or main presentation]. 38
31352748 2019
Cyanosis With Dysautonomia Mimics Raynaud Disease. 38
31389817 2019
Generalized tonic seizures with autonomic signs are the hallmark of SCN8A developmental and epileptic encephalopathy. 38
31174070 2019
Complex Congenital Heart Malformation Including Transposition of the Great Vessels, Presenting as Sudden Unexplained Infant Death. 38
30485421 2019
Atrial fibrillation in adults with congenital heart disease. 38
30712848 2019
A new palliative surgical technique for high risk Total anomalous pulmonary venous connection (Sarmast-Takriti shunt). 38
31262322 2019
Echocardiographic evaluation of univentricular physiology and cavopulmonary shunts. 38
31246324 2019
Emergent Decompression of Intracranial Abscess in Eisenmenger Syndrome. 38
31295595 2019
Adverse Perioperative Events in Children with Complex Congenital Heart Disease Undergoing Operative Scoliosis Repair in the Contemporary Era. 38
31350568 2019
Prehospital clinical presentation in patients with acute coronary syndrome complicated by cardiogenic shock: A single center study. 38
30213588 2019
Early palliative balloon pulmonary valvuloplasty in neonates and young infants with tetralogy of Fallot. 38
31302722 2019
Misdiagnosis and pitfalls in Panayiotopoulos syndrome. 38
31369969 2019
Clinical presentation and outcome in congenital pulmonary malformation: 25 year retrospective study in Thailand. 38
31264305 2019
Perforation of the atretic pulmonary valve using chronic total occlusion (CTO) wire and coronary microcatheter. 38
31290594 2019
Pattern of un-operated Grown Up Congenital Heart (GUCH) patients presenting to a Tertiary Care Cardiac Institute of Punjab. 38
31372144 2019
Operable ventricular septal defect despite severe pulmonary hypertension and cyanosis! 38
31331408 2019
A rare cause of cyanosis since birth: Hb M-Iwate 38
31327183 2019
Association Between Cyanosis, Transfusion, and Thrombotic Complications in Neonates and Children Undergoing Cardiac Surgery. 38
31399304 2019
A Case of Dextrotransposition of the Great Arteries Type I with Reversed Differential Cyanosis. 38
31360611 2019
Image Diagnosis - Interrupted Aortic Arch in a Child With Differential Cyanosis. 38
30787249 2019
Exon sequencing of the alpha-2-globin gene for the differential diagnosis of central cyanosis in newborns: a case report. 38
31269924 2019
Fistula between the right pulmonary artery and the left atrium coexisting with a secundum-type atrial septal defect: An unusual case of cyanosis in a girl. 38
31215690 2019
Pulmonary arteriovenous malformations in a patient with single ventricle and polysplenia syndrome. 38
31270088 2019
The Complexity of Diagnosing High-Altitude Pulmonary Edema: A Case Report and Review of the Differential Diagnosis of Greater Than Expected Hypoxemia at Altitude. 38
31233382 2019
Biatrial drainage of right superior caval vein with preferential streaming into the left atrium. 38
31204631 2019
Aortopulmonary window in adults: A rare entity leading to Eisenmenger syndrome. 38
31116466 2019
[Asymmetric crying facies and vocal cord paralysis accompanied by congenital heart disease in an infant]. 38
31208514 2019
Drug-Eluting Stents Compared With Bare Metal Stents for Stenting the Ductus Arteriosus in Infants With Ductal-Dependent Pulmonary Blood Flow. 38
31350000 2019
Neurodevelopmental Delay following the Neonatal Repair of Coarctation and Arch Obstruction. 38
31207245 2019
Comparative molecular characterization, pathogenicity and seroprevalence of avian influenza virus H9N2 in commercial and backyard poultry flocks. 38
31174705 2019
Diagnosis and treatment of congenital tuberculosis: a systematic review of 92 cases. 38
31182120 2019
Accuracy of pulse oximeters at low oxygen saturations in children with congenital cyanotic heart disease: An observational study. 38
30938906 2019
Assessing the Incidence of Symptomatic Respiratory Syncytial Virus (RSV) Illness within a Prospective Birth Cohort in Managua, Nicaragua. 38
31257406 2019

Variations for Cyanosis, Transient Neonatal

ClinVar genetic disease variations for Cyanosis, Transient Neonatal:

# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 HBG2 NM_000184.3(HBG2): c.190C> T (p.His64Tyr) single nucleotide variant Pathogenic rs34474104 11:5275647-5275647 11:5254417-5254417
2 HBG2 NM_000184.2(HBG2): c.277C> T (p.His93Tyr) single nucleotide variant Pathogenic rs35103459 11:5275560-5275560 11:5254330-5254330
3 HBG2 NM_000184.3(HBG2): c.125T> C (p.Phe42Ser) single nucleotide variant Pathogenic rs34878913 11:5275712-5275712 11:5254482-5254482
4 HBG2 HBG2, HIS63LEU undetermined variant Pathogenic
5 HBG2 NM_000184.3(HBG2): c.202G> A (p.Val68Met) single nucleotide variant Pathogenic rs587776864 11:5275635-5275635 11:5254405-5254405
6 46;XY;t(18;20)(q21.1;p11.23)dn Translocation Uncertain significance
7 TNXB NM_019105.8(TNXB): c.6349_6352del (p.Val2117fs) deletion Uncertain significance rs754439905 6:32035630-32035633 6:32067853-32067856
8 TNXB NM_019105.8(TNXB): c.5052C> A (p.Asp1684Glu) single nucleotide variant Uncertain significance rs776883744 6:32038130-32038130 6:32070353-32070353

UniProtKB/Swiss-Prot genetic disease variations for Cyanosis, Transient Neonatal:

# Symbol AA change Variation ID SNP ID
1 HBG2 p.Phe42Ser VAR_003146 rs34878913
2 HBG2 p.His64Tyr VAR_003154 rs34474104
3 HBG2 p.His93Tyr VAR_003166 rs35103459
4 HBG2 p.His64Leu VAR_025336
5 HBG2 p.Val68Met VAR_065950 rs587776864
6 HBG2 p.Leu106His VAR_073159

Expression for Cyanosis, Transient Neonatal

Search GEO for disease gene expression data for Cyanosis, Transient Neonatal.

Pathways for Cyanosis, Transient Neonatal

GO Terms for Cyanosis, Transient Neonatal

Sources for Cyanosis, Transient Neonatal

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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
71 Tocris
73 UMLS via Orphanet
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