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 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 : 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 heart disease 11.4
9 cor triatriatum dexter 11.4
10 eisenmenger syndrome 11.4
11 dextro-looped transposition of the great arteries 11.4
12 heterotaxy 11.4
13 sulfhemoglobinemia 11.3
14 tricuspid atresia 11.3
15 pulmonary venous return anomaly 11.3
16 buerger disease 11.3
17 alveolar capillary dysplasia with misalignment of pulmonary veins 11.3
18 central hypoventilation syndrome, congenital 11.2
19 methemoglobinemia, beta type 11.2
20 methemoglobinemia, alpha type 11.2
21 arterial calcification of infancy 11.2
22 pulmonary atresia with intact ventricular septum 11.2
23 seizures, benign familial infantile, 1 11.2
24 acrocephalopolysyndactyly type iii 11.0
25 emphysema, congenital lobar 11.0
26 laryngomalacia 11.0
27 pulmonary fibrosis, idiopathic 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 167)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sodium citrate Approved, Investigational Phase 4 68-04-2
2
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
3
Caffeine Approved Phase 4 58-08-2 2519
4
Clavulanate Approved, Vet_approved Phase 4 58001-44-8 5280980
5
Ceftriaxone Approved Phase 4 73384-59-5 5479530 5361919
6
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
7
Metoclopramide Approved, Investigational Phase 4 364-62-5 4168
8
Clindamycin Approved, Vet_approved Phase 4 18323-44-9 29029
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
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
12
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
13
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
14
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
15 Nutrients Phase 4
16 Trace Elements Phase 4
17 Micronutrients Phase 4
18 Anticoagulants Phase 4
19 Citrate Phase 4
20 Phosphodiesterase Inhibitors Phase 4
21 Calcium, Dietary Phase 4
22 Central Nervous System Stimulants Phase 4
23 Chelating Agents Phase 4
24 Caffeine citrate Phase 4
25 Antibiotics, Antitubercular Phase 4
26 Parenteral Nutrition Solutions Phase 4
27 Fat Emulsions, Intravenous Phase 4
28 Soy Bean Phase 4
29 Antitubercular Agents Phase 4
30 Amoxicillin-Potassium Clavulanate Combination Phase 4
31 beta-Lactamase Inhibitors Phase 4
32 Anti-Bacterial Agents Phase 4
33 Gentamicins Phase 4
34 Anti-Infective Agents Phase 4
35 Pharmaceutical Solutions Phase 4
36 Dopamine Agents Phase 4
37 Dopamine D2 Receptor Antagonists Phase 4
38 Dopamine Antagonists Phase 4
39 Clindamycin phosphate Phase 4
40 Clindamycin palmitate Phase 4
41 Anesthetics Phase 4
42 Neurotransmitter Agents Phase 4
43 Adrenergic Agonists Phase 4
44 Autonomic Agents Phase 4
45 Adrenergic beta-Agonists Phase 4
46 Adrenergic Agents Phase 4
47 Tocolytic Agents Phase 4
48 Respiratory System Agents Phase 4
49 Anti-Asthmatic Agents Phase 4
50 Bronchodilator Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 96)
# 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 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 Efficacy, Tolerability and Biology of a Rho-kinase Inhibitor (Fasudil) in the Treatment of Raynaud's Phenomenon Completed NCT00498615 Phase 3 Fasudil
12 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
13 " 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
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 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
21 Impact of Early Enteral Feeding on Splanchnic Blood Flow After Surgery for Critical Heart Disease in the Newborn Terminated NCT00919945 Phase 2
22 Feasibility and Efficacy Of Negative Pressure Ventilation in Fontan populatioN: Cardiovascular Flow Assessment by Magnetic Resonance Imaging Completed NCT03251742 Phase 1
23 Dynamics of the Immune Response in Children to the 23-valent Pneumococcal Capsular Polysaccharide Vaccine (Pneumovax) Completed NCT03460730 Phase 1
24 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
25 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.
26 Diagnosis of Ascites in Infants and Children Unknown status NCT03341221
27 Pulse Oximetry With Clinical Observation to Screen for Lung Disease in Neonates Unknown status NCT02533583
28 A Study On the Risk of Nosocomial Infection in Mechanically Ventilated Neonate In NICU of Assiut University Children Hospital PROTOCOL OF THESIS Descriptive Study Unknown status NCT03310840
29 CA-125 and Severity of Pre-Eclampsia Unknown status NCT02704676
30 Long-term Effects on Pulmonary Function in Post- Fontan Operation Unknown status NCT01413308
31 Aerobic Exercise Increases Phosphate Removal During Hemodialysis Unknown status NCT01912417
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 Salbutamol in the Pediatric Emergencies: Nebulization Estimated Via AerogeN or Jet Unknown status NCT03042065
35 Effect of Remote Ischemic Preconditioning on Children Undergoing Cardiac Surgery: Implication of Preoperative Cyanosis Completed NCT01311310
36 Accuracy Assessment of 7 Clinical Indicators in Newborn Screening for Congenital Heart Disease Completed NCT01665261
37 Laryngomalacia Exposed Completed NCT01042223
38 Tranexamic Acid Reduces Blood Loss in Pediatric Cardiac Surgery Completed NCT00994994 Tranexamic Acid
39 Retrospective Review of Neonates With Neurological Complications Following Cardiac Surgery Completed NCT00366561
40 ST2, a Novel Biomarker for Cardiac Remodeling in Adults With Congenital Heart Disease Completed NCT01774890
41 Neuromuscular Electrical Stimulation Improves Exercise Tolerance in Patients With Advanced Heart Failure on Continuous Dobutamine Use - A Randomized Controlled Trial Completed NCT02668419
42 The Effect of Remote Ischemic Preconditioning on the Ischemic Reperfusion Injury in Infants With Ventricular Septal Defect and Pulmonary Hypertension Completed NCT01313832
43 Sleep-disordered Breathing in Eisenmenger Syndrome Completed NCT02614417
44 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
45 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
46 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
47 The Effects of Endotracheal Tube Fixation Methods on Hemodynamic Parameters During Endotracheal Suction in Cardiovascular Surgery Intensive Care Patients Completed NCT04199039
48 Intestinal Function in Neonates With Complex Congenital Heart Disease Completed NCT01475357
49 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
50 Assessment of Clinical Competence of Medical Students: a Comparison of High-fidelity Simulation, Serious Game and Multiple-choice Questions Completed NCT03884114

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, Skin, Testes, Brain, Kidney

Publications for Cyanosis, Transient Neonatal

Articles related to Cyanosis, Transient Neonatal:

(show top 50) (show all 5671)
# Title Authors PMID Year
1
A hemoglobin variant associated with neonatal cyanosis and anemia. 61 56 6
21561349 2011
2
Neonatal cyanosis due to a novel fetal hemoglobin: Hb F-Circleville [Ggamma63(E7)His-->Leu, CAT>CTT]. 61 56 6
19065339 2008
3
A new case of Hb F-M-Osaka [G gamma 63(E7)His-->Tyr] showed only benign neonatal cyanosis. 61 56 6
8811323 1996
4
Hemoglobin F-Cincinnati, alpha 2G gamma 2 41(C7) Phe-->Ser in a newborn with cyanosis. 61 56 6
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. 56 6
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
The prognosis of infants with neonatal respiratory inhibition syndrome. 61
30010451 2020
11
Association Between Cyanosis, Transfusion, and Thrombotic Complications in Neonates and Children Undergoing Cardiac Surgery. 61
31399304 2020
12
Determinants of long-term outcome of repaired pulmonary valve stenosis. 61
31130344 2020
13
Individual chronic mountain sickness symptom is an early warning sign of cognitive impairment. 61
31770535 2020
14
Hypoxia, hypercarbia, and mortality reporting in studies of anaesthesia-related neonatal neurodevelopmental delay in rodent models: A systematic review. 61
31644513 2020
15
Positive Association of Breastfeeding on Respiratory Syncytial Virus Infection in Hospitalized Infants: A Multicenter Retrospective Study. 61
32024328 2020
16
Early palliative balloon pulmonary valvuloplasty in neonates and young infants with tetralogy of Fallot. 61
31302722 2020
17
Pregnant Women With Uncorrected Congenital Heart Disease: Heart Failure and Mortality. 61
31511192 2020
18
Acquired systemic-to-pulmonary shunts in a 6-month-old child: case report and review of the literature. 61
32036804 2020
19
H-type tracheoesophageal fistula in the neonatal period: Difficulties in diagnosis and different treatment approaches. A case series. 61
31984700 2020
20
Clinical characteristics on manifestation and gene mutation of a transient neonatal cyanosis: A case report. 61
31970190 2020
21
Man With Cyanosis and Altered Mental Status. 61
31866026 2020
22
Severe Methemoglobinemia Secondary to Ferula asafoetida Ingestion in an Infant: A Case Report. 61
31929780 2020
23
Lyme aortitis. 61
31941668 2020
24
Chronic active Epstein-Barr virus infection with intrapulmonary shunting: A case report. 61
31983614 2020
25
Anaesthetic management of intraoperative tracheo-bronchial injury. 61
31828009 2020
26
The Kawashima Operation With Simultaneous Preparation for Transcatheter Fontan-Kreutzer Completion. 61
31658888 2020
27
Guidelines for Thrombolytic Therapy for Frostbite. 61
31899512 2020
28
Circumflex retroesophageal left aortic arch with right ductus arteriosus: A rare complete vascular ring diagnosed on computed tomography angiography. 61
32030046 2020
29
A bolt from the blue; A case report of an unusual asthma exacerbation. 61
31908916 2020
30
Successful treatment of amniotic fluid embolism complicated by disseminated intravascular coagulation with rivaroxaban: A case report. 61
31977912 2020
31
Balloon pulmonary valvuloplasty in neonates with critical pulmonary stenosis: Jugular or femoral. 61
32030030 2020
32
Characterization of bluetongue virus serotype 28. 61
31469936 2020
33
Acute Oral Toxicity of Pinnatoxin G in Mice. 61
32012834 2020
34
Clean technology for synchronous sequestration of charged organic micro-pollutant onto microwave-assisted hybrid clay materials. 61
31927738 2020
35
[Clinical features of pulmonary thromboembolism of eight children]. 61
31905472 2020
36
[Whole lung lavage in an infant with pulmonary alveolar proteinosis and literature review]. 61
31905476 2020
37
Pentalogy of Fallot: A case report and overview dental implications. 61
31794068 2020
38
Tracheoplasty for Congenital Tracheal Stenosis with Bilateral Tracheal Bronchus. 61
31996506 2020
39
Headache and Methemoglobinemia. 61
31724752 2020
40
Phenotypic and genetic spectrum of SCN8A-related disorders, treatment options, and outcomes. 61
31904124 2019
41
Clinical and postmortem findings of pentalogy of Fallot in an 18-month-old Holstein heifer. 61
31582644 2019
42
Cyanosis in a woman with a prosthetic tricuspid valve: when one door closes another opens. 61
31777222 2019
43
A Systematic Review of a Long-forgotten Cause of Atrial Fibrillation and Stroke: Cor Triatriatum. 61
31938652 2019
44
The forensic approach to plastic bag suffocation: Case reports and review of the literature. 61
31564205 2019
45
Transcatheter closure of right pulmonary artery to left atrium fistula in an infant: technical consideration and possible closure techniques. 61
31679544 2019
46
Novel mutations in SLC6A5 with benign course in hyperekplexia. 61
31604777 2019
47
Positional asphyxia in a work-related fatality. 61
31119506 2019
48
Hb Vanvitelli: A new unstable α-globin chain variant causes undiagnosed chronic haemolytic anaemia when co-inherited with deletion - α3.7. 61
31493379 2019
49
Pneumococcal infection transmission between family members with congenital asplenia: A case report. 61
31911908 2019
50
Methemoglobinemia Associated with Late-Onset Neonatal Sepsis: A Single-Center Experience. 61
30708394 2019

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.190C>T (p.His64Tyr)SNV Pathogenic 14981 rs34474104 11:5275647-5275647 11:5254417-5254417
2 HBG2 NM_000184.2(HBG2):c.277C>T (p.His93Tyr)SNV Pathogenic 14989 rs35103459 11:5275560-5275560 11:5254330-5254330
3 HBG2 NM_000184.3(HBG2):c.125T>C (p.Phe42Ser)SNV Pathogenic 14996 rs34878913 11:5275712-5275712 11:5254482-5254482
4 HBG2 HBG2, HIS63LEUundetermined variant Pathogenic 29752
5 HBG2 NM_000184.3(HBG2):c.202G>A (p.Val68Met)SNV Pathogenic 29753 rs587776864 11:5275635-5275635 11:5254405-5254405
6 HBG2 NM_000184.3(HBG2):c.85C>A (p.Leu29Met)SNV Pathogenic 800493 11:5275874-5275874 11:5254644-5254644
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

3 CDC
7 CNVD
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11 DGIdb
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32 ICD10
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43 MeSH
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57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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