TNCY
MCID: CYN002
MIFTS: 43

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 39 70
Cyanosis 44 32
Tncy 57 72
Cyanosis Transient Neonatal 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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® 57 613977
MeSH 44 D003490
ICD10 32 R23.0
MedGen 41 C3151421
UMLS 70 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) (Updated 20-May-2021)

MalaCards based summary : Cyanosis, Transient Neonatal, also known as cyanosis, is related to hemoglobinopathy toms river and rombo syndrome, and has symptoms including cyanosis An important gene associated with Cyanosis, Transient Neonatal is HBG2 (Hemoglobin Subunit Gamma 2). The drugs Iron and Hematinics have been mentioned in the context of this disorder. Affiliated tissues include heart, brain and skin, and related phenotypes are hepatomegaly and anemia

UniProtKB/Swiss-Prot : 72 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 283)
# Related Disease Score Top Affiliating Genes
1 hemoglobinopathy toms river 30.9 LOC106099065 HBG2
2 rombo syndrome 11.3
3 congenital methemoglobinemia 11.2
4 methemoglobinemia due to deficiency of methemoglobin reductase 11.2
5 tetralogy of fallot 11.1
6 central hypoventilation syndrome, congenital 11.0
7 methemoglobinemia, beta type 11.0
8 methemoglobinemia, alpha type 11.0
9 arterial calcification of infancy 11.0
10 methemoglobinemia 11.0
11 cyanosis and hepatic disease 11.0
12 methemoglobinemia, beta-globin type 11.0
13 heart disease 10.9
14 pulmonary atresia with intact ventricular septum 10.9
15 seizures, benign familial infantile, 1 10.9
16 cor triatriatum dexter 10.9
17 eisenmenger syndrome 10.9
18 dextro-looped transposition of the great arteries 10.9
19 heterotaxy 10.8
20 sulfhemoglobinemia 10.8
21 tricuspid atresia 10.8
22 pulmonary venous return anomaly 10.8
23 buerger disease 10.8
24 alveolar capillary dysplasia with misalignment of pulmonary veins 10.8
25 silicosis 10.8
26 adult respiratory distress syndrome 10.8
27 acrocephalopolysyndactyly type iii 10.8
28 emphysema, congenital lobar 10.8
29 laryngomalacia 10.8
30 neuropathy, hereditary sensory and autonomic, type iii 10.8
31 methemoglobinemia and ambiguous genitalia 10.8
32 obesity-hypoventilation syndrome 10.8
33 glycogen storage disease of heart, lethal congenital 10.8
34 lymphangiectasia, pulmonary, congenital 10.8
35 right ventricular hypoplasia, isolated 10.8
36 hydrocephalus with cerebellar agenesis 10.8
37 hypomagnesemia 1, intestinal 10.8
38 pulmonary alveolar proteinosis, acquired 10.8
39 pitt-hopkins syndrome 10.8
40 reynolds syndrome 10.8
41 episodic pain syndrome, familial, 1 10.8
42 chronic mountain sickness 10.8
43 hypoplastic right heart syndrome 10.8
44 esophageal atresia/tracheoesophageal fistula 10.8
45 severe pre-eclampsia 10.8
46 blue toe syndrome 10.8
47 congenital myasthenic syndrome 10.8
48 pulmonary venoocclusive disease 10.8
49 congenital laryngeal palsy 10.8
50 infantile apnea 10.8

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®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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 all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved Phase 2 7439-89-6 23925 29936
2 Hematinics Phase 2
3 Trace Elements Phase 2
4 Nutrients Phase 2
5 Epoetin alfa Phase 2 113427-24-0
6 Micronutrients Phase 2
7 Iron Supplement Phase 2
8
Valproic acid Approved, Investigational Phase 1 99-66-1 3121
9 Psychotropic Drugs Phase 1
10 Anticonvulsants Phase 1
11 Neurotransmitter Agents Phase 1
12
tannic acid Approved 1401-55-4
13
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
14
Dobutamine Approved 34368-04-2 36811
15
Fluticasone Approved, Experimental 90566-53-3 62924
16
Prednisone Approved, Vet_approved 53-03-2 5865
17
Imidacloprid Vet_approved 105827-78-9 86418
18 Calamus

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Erythropoietin to Prevent Unnecessary Transfusions In Patients With Cyanotic Congenital Heart Disease - A Prospective Randomized Control Trial Active, not recruiting NCT02564796 Phase 2 Epoetin Alfa and Iron;Iron
2 The Effectiveness of Valproic Acid in Treating Frequent Cyanotic Breath Holding Spells Completed NCT04482764 Phase 1 Valproic Acid
3 Aerobic Exercise Increases Phosphate Removal During Hemodialysis Unknown status NCT01912417
4 Effects of Hydrotherapy in Premature Infants With Bronchopulmonary Dysplasia During Hospitalization: a Randomized Clinical Trial Unknown status NCT03538977
5 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
6 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
7 Effect of Remote Ischemic Preconditioning on Children Undergoing Cardiac Surgery: Implication of Preoperative Cyanosis Completed NCT01311310
8 Neuromuscular Electrical Stimulation Improves Exercise Tolerance in Patients With Advanced Heart Failure on Continuous Dobutamine Use - A Randomized Controlled Trial Completed NCT02668419
9 Assessment of Clinical Competence of Medical Students: a Comparison of High-fidelity Simulation, Serious Game and Multiple-choice Questions Completed NCT03884114
10 Proposal for Retrospective Review of Descending Aortic Flow Reversal in Total Anomalous Pulmonary Venous Connection Terminated NCT00486070
11 A Retrospective Review of Postoperative Management of Cyanosis Following Bidirectional Glenn Operation Terminated NCT00327886

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, Brain, Skin, Tongue, Endothelial, Bone Marrow, Liver

Publications for Cyanosis, Transient Neonatal

Articles related to Cyanosis, Transient Neonatal:

(show top 50) (show all 5991)
# Title Authors PMID Year
1
A hemoglobin variant associated with neonatal cyanosis and anemia. 57 6 61
21561349 2011
2
Neonatal cyanosis due to a novel fetal hemoglobin: Hb F-Circleville [Ggamma63(E7)His-->Leu, CAT>CTT]. 61 57 6
19065339 2008
3
A new case of Hb F-M-Osaka [G gamma 63(E7)His-->Tyr] showed only benign neonatal cyanosis. 61 57 6
8811323 1996
4
Hemoglobin F-Cincinnati, alpha 2G gamma 2 41(C7) Phe-->Ser in a newborn with cyanosis. 6 57 61
7741137 1995
5
Mutant fetal hemoglobin causing cyanosis in a newborn. 61 57 6
2470017 1989
6
Hb F-M-Osaka [Ggamma63(E7)His --> tyr] in a newborn from southwest France. 6 57
12603090 2003
7
Hemoglobin FM-Fort Ripley: another lesson from the neonate. 57 6
2470018 1989
8
Hb F-M-Osaka or alpha 2G gamma 2(63)(E7)His----Tyr in a Caucasian male infant. 57 6
2483933 1989
9
A new abnormal fetal hemoglobin, Hb FM-Osaka (alpha 2 gamma 2 63His replaced by Tyr). 6 57
6158500 1980
10
A case report of Joubert syndrome with renal involvement and seizures in a neonate. 61
33717386 2021
11
[Ruptured chordae tendineae of tricuspid valve in neonate with intractable persistent pulmonary hypertension: a case report and literature review]. 61
33775048 2021
12
COVID-19 in Adults With Congenital Heart Disease. 61
33795039 2021
13
Siblings with pediatric sodium chlorite toxicity causing methemoglobinemia, renal failure and hemolytic anemia. 61
32948394 2021
14
Selective approach to preoperative echocardiography in esophageal atresia. 61
33388963 2021
15
Congenital bronchobiliary fistula: a case report and literature review. 61
33680473 2021
16
Foreign Body Retrieval by Using Flexible Cryoprobe in Children. 61
32649328 2021
17
Sodium-coupled neutral amino acid transporter SNAT2 counteracts cardiogenic pulmonary edema by driving alveolar fluid clearance. 61
33439101 2021
18
Case 288: Uhl Anomaly. 61
33750225 2021
19
[Autosomal dominant intellectual disability type 21 in a neonate]. 61
33691927 2021
20
Direct bare metal needle puncture and balloon angioplasty in calcified plaques of the common femoral artery guided by angiography ("BAMBOO SPEAR"). 61
33661389 2021
21
[A clinical analysis of pericardial effusion caused by central venous catheterization in preterm infants]. 61
33691919 2021
22
The many faces and outcomes of pulmonary vein stenosis in early childhood. 61
32506838 2021
23
Pathophysiology, Risk Factors, and Management of Atrial Fibrillation in Adult Congenital Heart Disease. 61
33516397 2021
24
Brotizolam During Pregnancy and Lactation: Brotizolam Levels in Maternal Serum, Cord Blood, Breast Milk, and Neonatal Serum. 61
33666494 2021
25
Congenital Hairy Polyp Causing Severe Upper Airway Obstruction in a Newborn: A Case Report. 61
33762553 2021
26
Clinical Case of Life-threatening Co-infection Due to Dirofilaria Immitis and Aelurostrongylus Abstrusus in a Cat: First Report of Feline Heartworm Disease in Bulgaria. 61
33664624 2021
27
Bordetella pertussis is a common pathogen in infants hospitalized for acute lower respiratory tract infection during the winter season. 61
33303359 2021
28
Staged Repair of Van Praagh Truncus Type A3. 61
33684014 2021
29
Suspected cyanide toxicity in cattle associated with ingestion of laurel - a case report. 61
33762021 2021
30
A Review of Heart Transplantation for Adults With Congenital Heart Disease. 61
32839039 2021
31
Beyond a routine blood gas, an easily picked but missed diagnosis of chronic Encephalopathy. 61
33718579 2021
32
Comparison of Management Strategies for Neonates With Symptomatic Tetralogy of Fallot. 61
33632484 2021
33
Cardiac herniation presenting as superior vena cava obstruction syndrome after intrapericardial pnemonectomy for locally advanced lung cancer---case report. 61
33789704 2021
34
Recovery of Symmetrical Peripheral Gangrene of Limbs in a Patient After Performing Hemoadsorption in Septic Shock. 61
33755240 2021
35
Pulmonary arteriovenous fistula. 61
33642721 2021
36
Simultaneous cardiac and pulmonary central cyanosis in a young girl: the double trouble. 61
33345761 2021
37
Neonatal Respiratory Distress and Airway Emergency: Report of Two Cases. 61
33805876 2021
38
Acral vascular syndrome Lennert type T cell lymphoma-a case report. 61
33661406 2021
39
First Observation of HbM-Saskatoon at the Origin of Neonatal Cyanosis in a Tunisian Baby. 61
33625083 2021
40
Bier anaemic spots, cyanosis and urticaria-like eruption syndrome: Report of two new cases. 61
33660844 2021
41
Methemoglobinemia caused by volatile nitrites derivates (‘poppers’) 61
33611266 2021
42
Successful Dual-Patch Closure of a Fistula between the Right Pulmonary Artery and the Left Atrium. 61
33046673 2021
43
Determinants of Outcome among Under-Five Children Hospitalized with Pneumonia at a Tertiary Health Facility in South-West Nigeria. 61
33641144 2021
44
In Vivo Transcutaneous Monitoring of Hemoglobin Derivatives Using a Red-Green-Blue Camera-Based Spectral Imaging Technique. 61
33546389 2021
45
From Other Journals: A Review of Recent Articles in Pediatric Cardiology. 61
33025027 2021
46
Critical congenital heart disease in neonates: a review article. 61
33605861 2021
47
Detection of inadequate anastomotic perfusion with handheld vital microscopy in two patients during colorectal surgery. 61
32955706 2021
48
[Perthes Syndrome after Roll-Over Trauma]. 61
33607674 2021
49
A visually striking case of primary acrocyanosis: A rare cause of the blue digit. 61
32800682 2021
50
Cardiac implantable device outcomes and lead survival in adult congenital heart disease. 61
32941867 2021

Variations for Cyanosis, Transient Neonatal

ClinVar genetic disease variations for Cyanosis, Transient Neonatal:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LOC106099065 , HBG2 NM_000184.3(HBG2):c.190C>T (p.His64Tyr) SNV Pathogenic 14981 rs34474104 GRCh37: 11:5275647-5275647
GRCh38: 11:5254417-5254417
2 LOC106099065 , HBG2 NM_000184.2(HBG2):c.277C>T (p.His93Tyr) SNV Pathogenic 14989 rs35103459 GRCh37: 11:5275560-5275560
GRCh38: 11:5254330-5254330
3 LOC106099065 , HBG2 NM_000184.3(HBG2):c.125T>C (p.Phe42Ser) SNV Pathogenic 14996 rs34878913 GRCh37: 11:5275712-5275712
GRCh38: 11:5254482-5254482
4 HBG2 H63L Variation Pathogenic 29752 GRCh37:
GRCh38:
5 LOC106099065 , HBG2 NM_000184.3(HBG2):c.202G>A (p.Val68Met) SNV Pathogenic 29753 rs587776864 GRCh37: 11:5275635-5275635
GRCh38: 11:5254405-5254405
6 LOC106099065 , HBG2 NM_000184.3(HBG2):c.85C>A (p.Leu29Met) SNV Pathogenic 800493 rs1278163109 GRCh37: 11:5275874-5275874
GRCh38: 11:5254644-5254644
7 TNXB NM_001365276.2(TNXB):c.6349_6352del (p.Val2117fs) Deletion Uncertain significance 523526 rs754439905 GRCh37: 6:32035630-32035633
GRCh38: 6:32067853-32067856
8 TNXB NM_001365276.2(TNXB):c.5052C>A (p.Asp1684Glu) SNV Uncertain significance 523525 rs776883744 GRCh37: 6:32038130-32038130
GRCh38: 6:32070353-32070353

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

72
# 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
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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