TNCY
MCID: CYN002
MIFTS: 45

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 56 29 13 6 39 71
Cyanosis 43 32
Tncy 56 73
Cyanosis Transient Neonatal 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
cyanosis, transient neonatal:
Inheritance autosomal dominant inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

OMIM 56 613977
MeSH 43 D003490
ICD10 32 R23.0
MedGen 41 C3151421
UMLS 71 C3151421

Summaries for Cyanosis, Transient Neonatal

OMIM : 56 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 Clindamycin and Sodium citrate 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 : 73 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 266)
# Related Disease Score Top Affiliating Genes
1 cyanosis and hepatic disease 12.4
2 rombo syndrome 12.0
3 congenital 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 methemoglobinemia 11.5
9 heart disease 11.4
10 cor triatriatum dexter 11.4
11 eisenmenger syndrome 11.4
12 dextro-looped transposition of the great arteries 11.4
13 heterotaxy 11.4
14 sulfhemoglobinemia 11.4
15 tricuspid atresia 11.3
16 pulmonary venous return anomaly 11.3
17 buerger disease 11.3
18 alveolar capillary dysplasia with misalignment of pulmonary veins 11.3
19 central hypoventilation syndrome, congenital 11.2
20 methemoglobinemia, beta type 11.2
21 methemoglobinemia, alpha type 11.2
22 arterial calcification of infancy 11.2
23 pulmonary atresia with intact ventricular septum 11.2
24 seizures, benign familial infantile, 1 11.2
25 acrocephalopolysyndactyly type iii 11.0
26 emphysema, congenital lobar 11.0
27 laryngomalacia 11.0
28 neuropathy, hereditary sensory and autonomic, type iii 11.0
29 methemoglobinemia and ambiguous genitalia 11.0
30 obesity-hypoventilation syndrome 11.0
31 glycogen storage disease of heart, lethal congenital 11.0
32 lymphangiectasia, pulmonary, congenital 11.0
33 right ventricular hypoplasia, isolated 11.0
34 hydrocephalus with cerebellar agenesis 11.0
35 hypomagnesemia 1, intestinal 11.0
36 pulmonary alveolar proteinosis, acquired 11.0
37 pitt-hopkins syndrome 11.0
38 reynolds syndrome 11.0
39 episodic pain syndrome, familial, 1 11.0
40 chronic mountain sickness 11.0
41 hypoplastic right heart syndrome 11.0
42 esophageal atresia/tracheoesophageal fistula 11.0
43 silicosis 11.0
44 severe pre-eclampsia 11.0
45 blue toe syndrome 11.0
46 congenital myasthenic syndrome 11.0
47 pulmonary venoocclusive disease 11.0
48 congenital laryngeal palsy 11.0
49 infantile apnea 11.0
50 tracheal agenesis 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:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 hepatomegaly 31 occasional (7.5%) HP:0002240
2 anemia 31 occasional (7.5%) HP:0001903
3 jaundice 31 occasional (7.5%) HP:0000952
4 reticulocytosis 31 occasional (7.5%) HP:0001923
5 cyanosis 31 HP:0000961
6 methemoglobinemia 31 HP:0012119

Symptoms via clinical synopsis from OMIM:

56
Skin Nails Hair Skin:
cyanosis
jaundice (in some)

Abdomen Liver:
hepatomegaly (in some)

Laboratory Abnormalities:
methemoglobinemia

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

Clinical features from OMIM:

613977

UMLS symptoms related to Cyanosis, Transient Neonatal:


cyanosis

Drugs & Therapeutics for Cyanosis, Transient Neonatal

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

(show top 50) (show all 164)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clindamycin Approved, Vet_approved Phase 4 18323-44-9 29029
2
Sodium citrate Approved, Investigational Phase 4 68-04-2
3
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
4
Caffeine Approved Phase 4 58-08-2 2519
5
Clavulanate Approved, Vet_approved Phase 4 58001-44-8 5280980
6
Ceftriaxone Approved Phase 4 73384-59-5 5361919 5479530
7
Metoclopramide Approved, Investigational Phase 4 364-62-5 4168
8
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
9
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
10
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
11
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
12
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
13
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
14 Gentamicins Phase 4
15 Clindamycin phosphate Phase 4
16 Clindamycin palmitate Phase 4
17 Phosphodiesterase Inhibitors Phase 4
18 Citrate Phase 4
19 Anti-Bacterial Agents Phase 4
20 Anti-Infective Agents Phase 4
21 Central Nervous System Stimulants Phase 4
22 Caffeine citrate Phase 4
23 Antibiotics, Antitubercular Phase 4
24 Fat Emulsions, Intravenous Phase 4
25 Soy Bean Phase 4
26 Amoxicillin-Potassium Clavulanate Combination Phase 4
27 beta-Lactamase Inhibitors Phase 4
28 Micronutrients Phase 4
29 Trace Elements Phase 4
30 Pharmaceutical Solutions Phase 4
31 Antiemetics Phase 4
32 Gastrointestinal Agents Phase 4
33 Dopamine Agents Phase 4
34 Dopamine Antagonists Phase 4
35 Anesthetics Phase 4
36 Adrenergic beta-Agonists Phase 4
37 Respiratory System Agents Phase 4
38 Adrenergic Agents Phase 4
39 Anti-Asthmatic Agents Phase 4
40 Albuterol Phase 4
41 Adrenergic Agonists Phase 4
42 Neurotransmitter Agents Phase 4
43 Tocolytic Agents Phase 4
44 Bronchodilator Agents Phase 4
45 Anti-Inflammatory Agents Phase 4
46 Anesthetics, General Phase 4
47 Antioxidants Phase 4
48 Platelet Aggregation Inhibitors Phase 4
49 Hypnotics and Sedatives Phase 4
50 Anesthetics, Intravenous Phase 4

Interventional clinical trials:

(show top 50) (show all 100)
# Name Status NCT ID Phase Drugs
1 A Randomized Clinical Trial Between Clindamycin Once and Thrice a Day in Septic Abortion. Unknown status NCT02309346 Phase 4 Clindamycin
2 Magnetic Resonance Imaging and Neurodevelopmental Outcomes in Preterm Infants Following Administration of High-Dose Caffeine - A Pilot Study Completed NCT00809055 Phase 4 Caffeine citrate
3 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 ®
4 Pneumonia in Children: Aetiology, Ideal Antibiotic Duration, Quality of Life Completed NCT02258763 Phase 4 Amoxicillin-Potassium Clavulanate Combination;Placebo
5 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
6 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
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 The Anti-inflammatory and Anti-oxidant Effects of Propofol and Sevoflurane in Children With Cyanotic Congenital Heart Disease Not yet recruiting NCT04125550 Phase 4 Propofol;Sevoflurane
9 Trial of ACE Inhibition in Infants With Single Ventricle (A Trial Conducted by the Pediatric Heart Network) Completed NCT00113087 Phase 3 Enalapril;Placebo
10 Combination Treatment With Bosentan and Sildenafil to Patients With Eisenmengers Syndrome Completed NCT00303004 Phase 3 Bosentan and Sildenafil
11 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
12 Efficacy, Tolerability and Biology of a Rho-kinase Inhibitor (Fasudil) in the Treatment of Raynaud's Phenomenon Completed NCT00498615 Phase 3 Fasudil
13 " Ilomedin for Treatment of Septic Shock With Persistent Microperfusion Defects ", a Double-blind, Randomized Controlled Trial:The I-MICRO Trial Recruiting NCT03788837 Phase 3 Ilomedin;NaCl
14 Safety and Feasibility of Controlled Tidal Volume Resuscitation of Preterm Infants ≤ 28 Weeks’ Gestation: A Randomized Controlled Pilot Study Terminated NCT00157989 Phase 3
15 Safety and Efficacy of Umbilical Cord Mesenchymal Stem Cell Injection for Diabetes Secondary Peripheral Arterial Disease Unknown status NCT02287831 Phase 1, Phase 2
16 Solar Powered Oxygen Delivery: An Open-label Non-inferiority Comparison to Standard Oxygen Delivery Using Oxygen Cylinders Completed NCT02100865 Phase 2
17 Determination of Nitrite as a Source of Bioactive Nitric Oxide in Human Subjects Completed NCT00048477 Phase 2 L-NMMA and Sodium Nitrite
18 Effects of Melatonin as a Novel Antioxidant and Free Radicals Scavenger in Neonatal Sepsis Completed NCT03295162 Phase 1, Phase 2 Melatonin 10 mg
19 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
20 Randomized Controlled Trial of Vitamin D Supplementation on Improvement of Pneumonic Children at Tertiary Pediatric Hospital in Egypt Active, not recruiting NCT04244474 Phase 1, Phase 2 A single one ml injection
21 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
22 Impact of Early Enteral Feeding on Splanchnic Blood Flow After Surgery for Critical Heart Disease in the Newborn Terminated NCT00919945 Phase 2
23 Feasibility and Efficacy Of Negative Pressure Ventilation in Fontan populatioN: Cardiovascular Flow Assessment by Magnetic Resonance Imaging Completed NCT03251742 Phase 1
24 Dynamics of the Immune Response in Children to the 23-valent Pneumococcal Capsular Polysaccharide Vaccine (Pneumovax) Completed NCT03460730 Phase 1
25 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
26 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.
27 Diagnosis of Ascites in Infants and Children Unknown status NCT03341221
28 Pulse Oximetry With Clinical Observation to Screen for Lung Disease in Neonates Unknown status NCT02533583
29 CA-125 and Severity of Pre-Eclampsia Unknown status NCT02704676
30 Aerobic Exercise Increases Phosphate Removal During Hemodialysis Unknown status NCT01912417
31 Long-term Effects on Pulmonary Function in Post- Fontan Operation Unknown status NCT01413308
32 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
33 Detection of Pleural Effusion by Internal Thoracic Impedance Method Unknown status NCT01601444
34 Fenestrated Vs Non Fenestrated Extra-Cardiac Total Cavo-pulmonary Connection in Patients With Standard Preoperative Risk Profiles, A Prospective Randomized Study Unknown status NCT03503032
35 Effect of Assisted Exercise on Musculoskeletal System and Growth in Preterm Infants Unknown status NCT03354988
36 Salbutamol in the Pediatric Emergencies: Nebulization Estimated Via AerogeN or Jet Unknown status NCT03042065
37 Effect of Remote Ischemic Preconditioning on Children Undergoing Cardiac Surgery: Implication of Preoperative Cyanosis Completed NCT01311310
38 Accuracy Assessment of 7 Clinical Indicators in Newborn Screening for Congenital Heart Disease Completed NCT01665261
39 Tranexamic Acid Reduces Blood Loss in Pediatric Cardiac Surgery Completed NCT00994994 Tranexamic Acid
40 Laryngomalacia Exposed Completed NCT01042223
41 Retrospective Review of Neonates With Neurological Complications Following Cardiac Surgery Completed NCT00366561
42 ST2, a Novel Biomarker for Cardiac Remodeling in Adults With Congenital Heart Disease Completed NCT01774890
43 Neuromuscular Electrical Stimulation Improves Exercise Tolerance in Patients With Advanced Heart Failure on Continuous Dobutamine Use - A Randomized Controlled Trial Completed NCT02668419
44 The Effect of Remote Ischemic Preconditioning on the Ischemic Reperfusion Injury in Infants With Ventricular Septal Defect and Pulmonary Hypertension Completed NCT01313832
45 Different Modalities for Evaluation of Fetal Cardiac Function in Pregnant Women With Rheumatic Heart Disease (RHD) Patients Completed NCT03095937
46 Sleep-disordered Breathing in Eisenmenger Syndrome Completed NCT02614417
47 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
48 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
49 The Effects of Endotracheal Tube Fixation Methods on Hemodynamic Parameters During Endotracheal Suction in Cardiovascular Surgery Intensive Care Patients Completed NCT04199039
50 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

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:

40
Heart, Lung, Liver, Testes, Skin, Brain, Kidney

Publications for Cyanosis, Transient Neonatal

Articles related to Cyanosis, Transient Neonatal:

(show top 50) (show all 5763)
# Title Authors PMID Year
1
A hemoglobin variant associated with neonatal cyanosis and anemia. 56 6 61
21561349 2011
2
Neonatal cyanosis due to a novel fetal hemoglobin: Hb F-Circleville [Ggamma63(E7)His-->Leu, CAT>CTT]. 6 56 61
19065339 2008
3
A new case of Hb F-M-Osaka [G gamma 63(E7)His-->Tyr] showed only benign neonatal cyanosis. 56 61 6
8811323 1996
4
Hemoglobin F-Cincinnati, alpha 2G gamma 2 41(C7) Phe-->Ser in a newborn with cyanosis. 56 6 61
7741137 1995
5
Mutant fetal hemoglobin causing cyanosis in a newborn. 61 56 6
2470017 1989
6
Hb F-M-Osaka [Ggamma63(E7)His --> tyr] in a newborn from southwest France. 56 6
12603090 2003
7
Hemoglobin FM-Fort Ripley: another lesson from the neonate. 6 56
2470018 1989
8
Hb F-M-Osaka or alpha 2G gamma 2(63)(E7)His----Tyr in a Caucasian male infant. 56 6
2483933 1989
9
A new abnormal fetal hemoglobin, Hb FM-Osaka (alpha 2 gamma 2 63His replaced by Tyr). 56 6
6158500 1980
10
Fractional exhaled nitric oxide in adult congenital heart disease. 61
32407788 2020
11
Exercise testing for assessment of heart failure in adults with congenital heart disease. 61
31686282 2020
12
IDDCA syndrome in a Chinese infant due to GNB5 biallelic mutations. 61
32203251 2020
13
Heart failure in the adult Ebstein patient. 61
32472521 2020
14
[Cardiogenic shock]. 61
32095880 2020
15
Early hours in the development of high-altitude pulmonary edema: time course and mechanisms. 61
32213112 2020
16
Successful occlusion of a large pulmonary arterio-venous fistula with Amplatzer septal occluder in a 16-year-old cyanotic boy. 61
32547663 2020
17
Bridging bronchus (pseudocarina) and left pulmonary artery sling: A case report and literature review. 61
32534300 2020
18
The many faces and outcomes of pulmonary vein stenosis in early childhood. 61
32506838 2020
19
EF hand-like motif mutations of Nav1.4 C-terminus cause myotonic syndrome by impairing fast inactivation. 61
32129495 2020
20
Adult congenital heart disease and the COVID-19 pandemic. 61
32522822 2020
21
Interstitial pneumonia as the initial presentation in an infant with a novel mutation of CD40 ligand-associated X-linked hyper-IgM syndrome: A case report. 61
32541472 2020
22
MAFB modulates the maturation of lymphatic vascular networks in mice. 61
32525258 2020
23
Primary repair of transposition of the great arteries with an interrupted aortic arch: a case report and literature review. 61
32527284 2020
24
Tricuspid atresia: Where are we now? 61
32484582 2020
25
Epidemiological and clinical characteristics of severe hand-foot-and-mouth disease (HFMD) among children: a 6-year population-based study. 61
32460823 2020
26
Red Blood Cell Transfusion After Stage I Palliation Is Associated With Worse Clinical Outcomes. 61
32390527 2020
27
Prevalence and Prognostic Association of a Clinical Diagnosis of Depression in Adult Congenital Heart Disease: Results of the Boston Adult Congenital Heart Disease Biobank. 61
32342722 2020
28
Assessing the Incidence of Symptomatic Respiratory Syncytial Virus Illness Within a Prospective Birth Cohort in Managua, Nicaragua. 61
31257406 2020
29
The Peacock study: feasibility of the dynamic characterisation of the paediatric hypothalamic-pituitary-adrenal function during and after cardiac surgery. 61
32450805 2020
30
Clinical and surgical aspects of congenital lobar over-inflation: a single center retrospective study. 61
32429981 2020
31
Percutaneous Atrial Septal Defect Closure in Adult Ebstein's Anomaly with Exertional Hypoxemia. 61
32418968 2020
32
Whole bowel irrigation in dapsone intoxication with persistent methemoglobinemia: A case report. 61
32507475 2020
33
Clinical Spectrum and Long-term Outcome of 183 Cases of Ebstein's Anomaly, Experience of Mexican Population. 61
32253047 2020
34
A summary of second systemic pulmonary shunt for congenital heart disease with pulmonary hypoxemia. 61
32410655 2020
35
Image to Fit the Clinical Picture: Point-of-care Ultrasound Assessment of Ebstein's Anomaly in Peru. 61
32426677 2020
36
Acquired methemoglobinemia presenting to the pediatric emergency department: a clinical challenge. 61
32396060 2020
37
Systematic Review of Methemoglobinemia in Acetaminophen Poisoning. 61
32428237 2020
38
Coronavirus: a clinical update of Covid-19. 61
32428144 2020
39
Pulmonary hypertension in late-onset Methylmalonic Aciduria and Homocystinemia: a case report. 61
32443968 2020
40
Congenital systemic venous drainage obstruction: A case report. 61
32403179 2020
41
Chronic active Epstein-Barr virus infection with intrapulmonary shunting: A case report. 61
31983614 2020
42
Foreign Body Aspiration Presenting as Pneumothorax in a Child. 61
32550077 2020
43
Development of Eosinophilic Temporal Arteritis and Digital Ischemia in a Patient with Hypereosinophilic Syndrome. 61
32101832 2020
44
New type of corona virus induced acute otitis media in adult. 61
32336572 2020
45
Supraglottoplasty in Neonates under One Month of Age. 61
31875410 2020
46
Successful rescue using tracheal intubation cannula for severe central airway stenosis after tracheotomy: A CARE compliant case report. 61
32481279 2020
47
Severe acute dried gangrene in COVID-19 infection: a case report. 61
32495913 2020
48
Approach to Cyanotic Congenital Heart Disease in Children. 61
32285325 2020
49
Bacteremia in critical care units at Bugando Medical Centre, Mwanza, Tanzania: the role of colonization and contaminated cots and mothers' hands in cross-transmission of multidrug resistant Gram-negative bacteria. 61
32375857 2020
50
Povidone-iodine chemical pleurodesis in treating spontaneous chylothorax in pediatric patients. 61
32434361 2020

Variations for Cyanosis, Transient Neonatal

ClinVar genetic disease variations for Cyanosis, Transient Neonatal:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HBG2 NM_000184.3(HBG2):c.85C>A (p.Leu29Met)SNV Pathogenic 800493 11:5275874-5275874 11:5254644-5254644
2 HBG2 NM_000184.3(HBG2):c.190C>T (p.His64Tyr)SNV Pathogenic 14981 rs34474104 11:5275647-5275647 11:5254417-5254417
3 HBG2 NM_000184.2(HBG2):c.277C>T (p.His93Tyr)SNV Pathogenic 14989 rs35103459 11:5275560-5275560 11:5254330-5254330
4 HBG2 NM_000184.3(HBG2):c.125T>C (p.Phe42Ser)SNV Pathogenic 14996 rs34878913 11:5275712-5275712 11:5254482-5254482
5 HBG2 HBG2, HIS63LEUundetermined variant Pathogenic 29752
6 HBG2 NM_000184.3(HBG2):c.202G>A (p.Val68Met)SNV Pathogenic 29753 rs587776864 11:5275635-5275635 11:5254405-5254405
7 46;XY;t(18;20)(q21.1;p11.23)dnTranslocation Uncertain significance 268042
8 TNXB NM_001365276.2(TNXB):c.6349_6352del (p.Val2117fs)deletion Uncertain significance 523526 rs754439905 6:32035630-32035633 6:32067853-32067856
9 TNXB NM_001365276.2(TNXB):c.5052C>A (p.Asp1684Glu)SNV Uncertain significance 523525 rs776883744 6:32038130-32038130 6:32070353-32070353

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

73
# 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

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57 OMIM via Orphanet
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63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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