Sudden Infant Death Syndrome (SIDS)

Categories: Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Sudden Infant Death Syndrome

MalaCards integrated aliases for Sudden Infant Death Syndrome:

Name: Sudden Infant Death Syndrome 56 12 74 52 73 29 54 6 42 3 15 17 71 32
Sids 56 12 52 73 3
Sudden Infant Death Syndrome, Susceptibility to 56 13
Sudden Death of Nonspecific Cause in Infancy 12
Death, Sudden, Syndrome, Infant 39
Sudden Infant Death 43
Crib Death 12
Cot Death 12



? autosomal recessive form vs. multifactorial


sudden infant death syndrome:
Clinical modifier sudden death
Inheritance autosomal recessive inheritance multifactorial inheritance


External Ids:

Disease Ontology 12 DOID:9007
OMIM 56 272120
ICD9CM 34 798.0
MeSH 43 D013398
NCIt 49 C85173
SNOMED-CT 67 51178009
ICD10 32 R95
MedGen 41 C0038644
UMLS 71 C0038644

Summaries for Sudden Infant Death Syndrome

MedlinePlus : 42 Sudden infant death syndrome (SIDS) is the sudden, unexplained death of an infant younger than one year old. Some people call SIDS "crib death" because many babies who die of SIDS are found in their cribs. SIDS is the leading cause of death in children between one month and one year old. Most SIDS deaths occur when babies are between one month and four months old. Premature babies, boys, African Americans, and American Indian/Alaska Native infants have a higher risk of SIDS. Although the cause of SIDS is unknown, there are steps you can take to reduce the risk. These include Placing your baby on his or her back to sleep, even for short naps. "Tummy time" is for when babies are awake and someone is watching Having your baby sleep in your room for at least the first six months. Your baby should sleep close to you, but on a separate surface designed for infants, such as a crib or bassinet. Using a firm sleep surface, such as a crib mattress covered with a fitted sheet Keeping soft objects and loose bedding away from your baby's sleep area Breastfeeding your baby Making sure that your baby doesn't get too hot. Keep the room at a comfortable temperature for an adult. Not smoking during pregnancy or allowing anyone to smoke near your baby NIH: National Institute of Child Health and Human Development

MalaCards based summary : Sudden Infant Death Syndrome, also known as sids, is related to short qt syndrome and brugada syndrome, and has symptoms including apnea An important gene associated with Sudden Infant Death Syndrome is SCN5A (Sodium Voltage-Gated Channel Alpha Subunit 5), and among its related pathways/superpathways are Cardiac conduction and cGMP-PKG signaling pathway. The drugs Olive and Omega 3 Fatty Acid have been mentioned in the context of this disorder. Affiliated tissues include heart, brain and lung, and related phenotypes are malignant hyperthermia and apneic episodes in infancy

Disease Ontology : 12 A syndrome that is characterized by the sudden death of an infant that is not predicted by medical history and remains unexplained after a thorough forensic autopsy and detailed death scene investigation.

NIH Rare Diseases : 52 Sudden infant death syndrome (SIDS) is the unexpected, sudden death of a child under age 1 which cannot be explained after a thorough investigation is conducted. Infants who are affected by the condition generally appear healthy with no suspicious signs and symptoms prior to the incident. It is the leading cause of death in infants age 1 to 12 months old. The exact underlying cause of SIDS is unknown; however, scientists suspect that it is likely a multifactorial condition (associated with the effects of multiple genes in combination with lifestyle and environmental factors ). Although there is no guaranteed way to prevent SIDS, the American Academy of Pediatrics has a published list of recommendations for risk reduction. Please click on the link to access this resource.

OMIM : 56 Sudden infant death syndrome (SIDS) is a diagnosis of exclusion which should be made only after a thorough autopsy without identification of a specific cause of death (Mage and Donner, 2004). Weese-Mayer et al. (2007) provided a detailed review of genetic factors that have been implicated in SIDS. The authors concluded that SIDS represents more than 1 entity and has a heterogeneous etiology most likely involving several different genetically controlled metabolic pathways. (272120)

CDC : 3 Sudden unexpected infant death (SUID) is a term used to describe the sudden and unexpected death of a baby less than 1 year old in which the cause was not obvious before investigation. These deaths often happen during sleep or in the baby's sleep area. Learn more about the problem and CDC activities.

UniProtKB/Swiss-Prot : 73 Sudden infant death syndrome: SIDS is the sudden death of an infant younger than 1 year that remains unexplained after a thorough case investigation, including performance of a complete autopsy, examination of the death scene, and review of clinical history. Pathophysiologic mechanisms for SIDS may include respiratory dysfunction, cardiac dysrhythmias, cardiorespiratory instability, and inborn errors of metabolism, but definitive pathogenic mechanisms precipitating an infant sudden death remain elusive.

Wikipedia : 74 Sudden infant death syndrome (SIDS), also known as cot death or crib death, is the sudden unexplained... more...

Related Diseases for Sudden Infant Death Syndrome

Diseases related to Sudden Infant Death Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 494)
# Related Disease Score Top Affiliating Genes
1 short qt syndrome 33.1 SCN5A SCN4B KCNQ1 KCNJ8 KCNH2 GPD1L
2 brugada syndrome 33.0 SNTA1 SCN5A SCN4B KCNQ1 KCNJ8 KCNH2
3 long qt syndrome 31.7 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 GPD1L
4 sleep apnea 31.6 SLC6A4 PHOX2B HTR2A
5 cardiac arrhythmia 31.5 SCN5A KCNQ1 KCNH2
6 familial long qt syndrome 31.5 SCN5A KCNQ1 KCNH2
7 cardiac conduction defect 31.4 SCN5A KCNQ1 KCNH2
8 cardiac arrest 31.3 SCN5A KCNQ1 KCNJ8 KCNH2
9 ventricular fibrillation, paroxysmal familial, 1 31.2 SCN5A KCNQ1 KCNH2
10 central hypoventilation syndrome, congenital 31.1 TH PHOX2B HTR1A
11 long qt syndrome 1 31.1 SNTA1 SCN5A SCN4B KCNQ1 KCNJ8 KCNH2
12 hypertrophic cardiomyopathy 31.0 SCN5A KCNQ1 KCNJ8 KCNH2 GPD1L CAV3
13 syncope 31.0 SCN5A KCNQ1 KCNH2
14 familial short qt syndrome 30.9 KCNQ1 KCNH2
15 long qt syndrome 3 30.9 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 CAV3
16 substance abuse 30.9 SLC6A4 HTR2A HTR1A
17 catecholaminergic polymorphic ventricular tachycardia 30.9 SNTA1 SCN5A SCN4B KCNQ1 KCNJ8 KCNH2
18 wolff-parkinson-white syndrome 30.9 SCN5A KCNQ1 KCNH2
19 sleep disorder 30.8 TH SLC6A4 HTR2A HTR1A
20 right bundle branch block 30.7 SCN5A KCNH2 GPD1L
21 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 30.7 SCN5A KCNQ1 KCNH2
22 brugada syndrome 2 30.7 SCN5A GPD1L
23 depression 30.7 SLC6A4 HTR2A HTR1A
24 jervell and lange-nielsen syndrome 1 30.6 SNTA1 SCN5A SCN4B KCNQ1 KCNH2
25 atrial fibrillation 30.6 SCN5A SCN4B KCNQ1 KCNH2
26 alcohol use disorder 30.6 SLC6A4 HTR3A HTR2A HTR1A
27 left ventricular noncompaction 30.6 SNTA1 SCN5A KCNQ1 KCNH2 GPD1L
28 malignant hyperthermia 30.6 SCN5A KCNH2 CAV3
29 gilles de la tourette syndrome 30.6 TH SLC6A4 HTR3A HTR2A HTR1A
30 epileptic encephalopathy, early infantile, 6 30.5 SCN5A SCN4B HTR2A HTR1A
31 long qt syndrome 9 30.5 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 GPD1L
32 long qt syndrome 2 30.5 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 GPD1L
33 neuromuscular disease 30.5 SCN5A KCNH2 CHAT CAV3
34 dilated cardiomyopathy 30.5 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 GPD1L
35 congenital myasthenic syndrome 30.4 SCN5A KCNQ1 KCNH2 CHAT CAV3
36 anxiety 30.4 TH SLC6A4 HTR3A HTR2A HTR1A FEV
37 disease of mental health 30.4 TH SLC6A4 HTR3A HTR2A HTR1A
38 pervasive developmental disorder 30.3 TH SLC6A4 HTR2A HTR1A
39 alcohol dependence 30.3 TH SLC6A4 HTR3A HTR2A HTR1A
40 autism 30.2 TH SLC6A4 HTR3A HTR2A HTR1A ADCYAP1
41 constipation 30.2 TH SLC6A4 HTR3A HTR2A HTR1A CHAT
42 migraine with or without aura 1 30.2 SLC6A4 SCN5A HTR3A HTR2A HTR1A ADCYAP1
43 hyperekplexia 11.7
44 infantile apnea 11.6
45 cardiomyopathy, infantile histiocytoid 11.5
46 mucopolysaccharidosis, type ii 11.4
47 3-hydroxyacyl-coa dehydrogenase deficiency 11.2
48 mitochondrial trifunctional protein deficiency 11.2
49 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency 11.1
50 coccidioidomycosis 11.1

Graphical network of the top 20 diseases related to Sudden Infant Death Syndrome:

Diseases related to Sudden Infant Death Syndrome

Symptoms & Phenotypes for Sudden Infant Death Syndrome

Human phenotypes related to Sudden Infant Death Syndrome:

# Description HPO Frequency HPO Source Accession
1 malignant hyperthermia 31 HP:0002047
2 apneic episodes in infancy 31 HP:0005949

Symptoms via clinical synopsis from OMIM:

sudden infant death
malignant hyperthermia association

periodic apnea

Clinical features from OMIM:


UMLS symptoms related to Sudden Infant Death Syndrome:


GenomeRNAi Phenotypes related to Sudden Infant Death Syndrome according to GeneCards Suite gene sharing:

# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00249-S 9.28 SLC6A4
2 Decreased viability GR00381-A-1 9.28 HTR1A HTR3A SLC6A4
3 Decreased viability GR00381-A-3 9.28 HTR1A HTR3A SLC6A4
4 Decreased viability GR00402-S-2 9.28 HTR1A HTR3A

MGI Mouse Phenotypes related to Sudden Infant Death Syndrome:

# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.21 ADCYAP1 CHAT EN1 FEV HTR1A HTR2A
2 homeostasis/metabolism MP:0005376 10.13 ACADM ADCYAP1 CAV3 CHAT EN1 FEV
3 cardiovascular system MP:0005385 10.1 ACADM CAV3 CHAT EN1 HTR1A KCNH2
4 mortality/aging MP:0010768 10 ACADM ADCYAP1 CHAT EN1 FEV HTR1A
5 muscle MP:0005369 9.77 ACADM ADCYAP1 CAV3 CHAT EN1 HTR2A
6 nervous system MP:0003631 9.47 ADCYAP1 CHAT EN1 FEV HTR1A HTR3A

Drugs & Therapeutics for Sudden Infant Death Syndrome

Drugs for Sudden Infant Death Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Olive Phase 2
2 Omega 3 Fatty Acid Phase 2
Chlorhexidine Approved, Vet_approved 55-56-1 9552079 2713
Bupropion Approved 34911-55-2, 34841-39-9 444
Sulfamethazine Approved, Investigational, Vet_approved 57-68-1 5327
Carbon monoxide Approved, Investigational 630-08-0 281
7 Kava Approved, Investigational, Nutraceutical 9000-38-8
8 Chlorhexidine gluconate
9 Pharmaceutical Solutions
10 Soy Bean
Serotonin Investigational, Nutraceutical 50-67-9 5202

Interventional clinical trials:

(show top 50) (show all 64)
# Name Status NCT ID Phase Drugs
1 Influence of Pacifiers on Breastfeeding Duration: a Multicentre, Randomised Controlled Trial Completed NCT00306956 Phase 3
2 Randomized, Controlled Open-Label Study of Nicotine Replacement Therapy in Pregnancy Withdrawn NCT00744913 Phase 3 Nicoderm patches
3 Labetalol Versus MgSO4 for the Prevention of Eclampsia Trial (LAMPET) Withdrawn NCT00293735 Phase 2, Phase 3 labetalol (seizure prevention);MgSO4 (seizure prevention)
4 ECG Device for Long QT Syndrome Screening in Newborns Unknown status NCT02412709 Phase 2
5 Nicotine Replacement Therapy Methods for Pregnant Women Completed NCT00341432 Phase 2
6 The Period of PURPLE Crying: An Educational Intervention to Change the Knowledge, Attitudes and Behaviour of New Parents About Early Infant Crying Completed NCT00175422 Phase 1, Phase 2
7 Investigating N-3 Fatty Acids to Prevent Neonatal Tobacco-related outcomeS Not yet recruiting NCT04417595 Phase 2 Fish Oil (Containing Omega-3 Acids);Olive Oil
8 Preventing Postpartum Relapse to Smoking Using Yoga and Cognitive Behavioral Therapy: A Randomized Pilot Study Completed NCT00360581 Phase 1
9 Do Pacifiers Protect From Sudden Infant Death Syndrome (SIDS) Through an Increase in Upper Airway Patency? Unknown status NCT01120938
10 Brainstem Assesment in a Cohort of Very Preterm Babies (Less Than 28 Weeks) Unknown status NCT02669056
11 Reducing Second-hand Smoke Exposure Among Young Children in Rural China Unknown status NCT03567512
12 Optimizing Technology-Delivered Interventions for Smoking in Pregnancy: The Mommy Check-Up Study. Unknown status NCT02340624
13 Functional Bed Sheet Capturing Respiratory Effort Unknown status NCT03119103
14 Impact of Exercise on Body Composition in Premature Infants: New Approaches Unknown status NCT01386190
15 The Inclined Position in Case of Respiratory Discomfort in the One Year Less Infant : Study on the Profits and the Risks in the Home Unknown status NCT03482804
16 Optic Nerve Sheath Diameter Measured by Bedside Ultrasound May be a Simple Screening Test for Increased Intracranial Pressure in the Comatose Critically Ill Patient Unknown status NCT02338284
17 An Ultrasound- Guided Algorithm for the Management of Oliguria in Septic Shock Unknown status NCT02338895
18 Re-enforcing Safe Sleep Practices for Caregivers With Tangible Incentives: Pilot Testing of the MSSC Physician Safe Sleep Taskforce Caregiver Incentive Toolkit Completed NCT02010450
19 Changes in Sleep Patterns and Stress in Infants Entering Child Care: Implications for SIDS Risk Completed NCT01265277
20 Incidence and Severity of Cardiorespiratory Events in Infants at Increased Epidemiological Risk for Sudden Infant Death Syndrome (SIDS) Completed NCT00004392
21 Parental Knowledge and Beliefs About Infant Sleep Position Completed NCT00005567
22 Factors Influencing the Racial Disparity in Sudden Infant Death Syndrome (SIDS) Completed NCT01361893
23 A Randomized Controlled Trial Comparing a Children's Book to Brochures for Safe Sleep Education in an At-Risk Population Enrolled in a Home Visitation Program Completed NCT02376673
24 Circulating Biomarker(s) of Muscarinic Receptor Overexpression and Vagal Disorders. Completed NCT01358461
25 Randomized Messaging Trial to Reduce African-American Infant Mortality Completed NCT01361880
26 Genetic Determinants of Sudden Cardiac Death Completed NCT00064558
27 A+ Head Start Intervention for Smoke Free Homes Completed NCT00927264
28 Evaluation of the Smoking Cessation and Tobacco Use Exposure Patterns of Head Start Parents in Boston Completed NCT02557919
29 Impact of Smoke-free Legislation on Early-life Mortality and Low Birth Weight in England: a Quasi-experimental Study Completed NCT02039583
30 Reducing Environmental Tobacco Smoke in NICU Infants' Homes Completed NCT00670280
31 Social Media And Risk-reduction Training for Infant Care Practices (SMART) Completed NCT01713868
32 "Anticipatory Guidance in the Nursery and Its Impact on Non-urgent Emergency Department Visits" Completed NCT01859065
33 A Randomized Controlled Trial Pilot Study of the Thirty Million Words® Newborn Initiative Intervention, a Novel Postpartum Educational Video Completed NCT02267265
34 Stachybotrys Induced Hemorrhage in the Developing Lung Completed NCT00011700
35 Enhancing Safe Sleep Practices of Urban Low-Income Mothers Completed NCT03070639
36 SMS Scheduled Gradual Reduction Text Messages to Help Pregnant Smokers Quit Completed NCT01995097
37 Reducing Secondhand Smoke Exposure Among Young Children Completed NCT00995254
38 Post Mortem Magnetic Resonance Imaging in the Fetus, Infant and Child: A Comparative Study With Conventional Autopsy Completed NCT01417962
39 A Randomized Controlled Trial of The Impact of Parental Note Taking on the Effectiveness of Anticipatory Guidance: the Suzuki Music Model Applied to Urban Pediatrics Completed NCT01014169
40 Validation of Non-invasive Technologies for the Characterization of Sweat Gland Function in Patients With Recessively Inherited Hypohidrotic Ectodermal Dysplasia, Their Heterozygous Family Members and Healthy Controls Completed NCT01109290
41 Evaluation of Safe Sleep for Babies: a Bassinet Distribution and Education Program Completed NCT03392727
42 Cohort Study on Prevalence and Early Treatment Outcomes in Pierre-Robin-Like Phenotype Completed NCT02266043
43 Assessing the Impact of Smoke-free Legislation on Perinatal Health in the Netherlands Completed NCT02189265
44 Improving the Self-Efficacy of African American Parents in Infant Supine Sleep Completed NCT01707173
45 Is Home Positioning Time Associated With Torticollis Rate of Recovery? Completed NCT00347334
46 Smoking Cessation Following Text Message Intervention in Pregnant Women Completed NCT03024606
47 Pediatrician Advice, Family Counseling & SHS Reduction for Underserved Children Completed NCT01745393
48 Improving Infant Sleep Safety With the Electronic Health Record: Using Infant Photographs Taken by Parents for Individualized Feedback Completed NCT03662048
49 Evaluation of a Safe Infusion Device in Reducing Occupational Exposure of Nurses to Antineoplastic Drugs: a Comparative Prospective Study. CONTAMOINS-1 Completed NCT04102332
50 Effect of Using a Structured Tobacco Cessation Education Program in Resident Training on Reducing Secondhand Smoke Exposure in Children Completed NCT00683228

Search NIH Clinical Center for Sudden Infant Death Syndrome

Cochrane evidence based reviews: sudden infant death

Genetic Tests for Sudden Infant Death Syndrome

Genetic tests related to Sudden Infant Death Syndrome:

# Genetic test Affiliating Genes
1 Sudden Infant Death Syndrome 29 SCN5A

Anatomical Context for Sudden Infant Death Syndrome

MalaCards organs/tissues related to Sudden Infant Death Syndrome:

Heart, Brain, Lung, Testes, Breast, Liver, Medulla Oblongata

Publications for Sudden Infant Death Syndrome

Articles related to Sudden Infant Death Syndrome:

(show top 50) (show all 6050)
# Title Authors PMID Year
A common cardiac sodium channel variant associated with sudden infant death in African Americans, SCN5A S1103Y. 56 6 61
16453024 2006
Mitochondrial DNA point mutations detected in four cases of sudden infant death syndrome. 61 56 6
10519336 1999
Sudden Infant Death Syndrome: review of implicated genetic factors. 56 54 61
17340630 2007
Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3. 56 54 61
17275750 2007
Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing. 6 61 54
15851227 2004
The sudden infant death syndrome gene: does it exist? 56 54 61
15466077 2004
Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome. 54 61 56
11710892 2001
Serotonin transporter gene variation is a risk factor for sudden infant death syndrome in the Japanese population. 54 56 61
11335745 2001
Homing in on a SIDS model. 61 56
18988825 2008
Sporadic autonomic dysregulation and death associated with excessive serotonin autoinhibition. 56 61
18599790 2008
The fifty percent male excess of infant respiratory mortality. 56 61
15384886 2004
Distinct cytokine profile in SIDS brain: a common denominator in a multifactorial syndrome? 56 61
14610131 2003
Association of the serotonin transporter gene with sudden infant death syndrome: a haplotype analysis. 56 61
12966525 2003
Sudden infant death syndrome: association with a promoter polymorphism of the serotonin transporter gene. 56 61
12599191 2003
Molecular diagnosis in a child with sudden infant death syndrome. 61 56
11684219 2001
A molecular link between the sudden infant death syndrome and the long-QT syndrome. 56 61
10911008 2000
Ontogenesis of CYP2C-dependent arachidonic acid metabolism in the human liver: relationship with sudden infant death syndrome. 56 61
10813596 2000
Prolongation of the QT interval and the sudden infant death syndrome. 56 61
10103308 1999
Prolonged QTc as a risk factor for SIDS. 61 56
10103309 1999
The implications of a relationship between prolonged QT interval and the sudden infant death syndrome. 56 61
10103310 1999
Prolongation of the QT interval and the sudden infant death syndrome. 61 56
9624190 1998
Retrospective biochemical screening of fatty acid oxidation disorders in postmortem livers of 418 cases of sudden death in the first year of life. 61 56
9627580 1998
Cytochrome P-450 expression in sudden infant death syndrome. 56 61
8687505 1996
Decreased muscarinic receptor binding in the arcuate nucleus in sudden infant death syndrome. 61 56
7660131 1995
The mystery of SIDS. A murder conviction revives questions about infant deaths. 56 61
7652525 1995
Multiple 'SIDS' case ruled murder. 56 61
7725090 1995
Arcuate nucleus hypoplasia in the sudden infant death syndrome. 61 56
1619439 1992
Death-scene investigation in sudden infant death. 56 61
3724796 1986
Simultaneous sudden infant death syndrome in twins. 61 56
3754958 1986
QT interval measurements before sudden infant death syndrome. 61 56
3707181 1986
Incidence of apnea in siblings of sudden infant death syndrome victims studied at home. 61 56
7088613 1982
Potential role of QT interval prolongation in sudden infant death syndrome. 56 61
947572 1976
Prolonged apnea and the sudden infant death syndrome: clinical and laboratory observations. 61 56
4342142 1972
Distinct Populations of Sudden Unexpected Infant Death Based on Age. 61 42
31818863 2020
Inconsistent classification of unexplained sudden deaths in infants and children hinders surveillance, prevention and research: recommendations from The 3rd International Congress on Sudden Infant and Child Death. 61 42
31502215 2019
SIDS, BRUE, and Safe Sleep Guidelines. 42 61
31477587 2019
HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). 6
21810866 2011
Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation. 6
18378609 2008
SNP S1103Y in the cardiac sodium channel gene SCN5A is associated with cardiac arrhythmias and sudden death in a white family. 6
12471205 2002
Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia. 6
12193783 2002
About the "Pathological" role of the mtDNA T3308C mutationellipsis. 6
10521313 1999
Comments on a sudden infant death article in another journal. 56
10103306 1999
Somatic mutations of the mitochondrial genome in human colorectal tumours. 6
9806551 1998
The long QT syndrome in children. An international study of 287 patients. 56
8099317 1993
Clinical features of the idiopathic long QT syndrome. 56
1345816 1992
Primary alveolar hypoventilation (Ondine's curse syndrome) in an infant without external arcuate nucleus. Case report. 56
497494 1979
On the origin of cancer cells. 6
13298683 1956
Amniotic fluid aspiration in cases of SIDS. 61 54
19904550 2010
The role of 5-HT3 and other excitatory receptors in central cardiorespiratory responses to hypoxia: implications for sudden infant death syndrome. 61 54
19247214 2009
A985G mutation incidence in the medium-chain acyl-CoA dehydrogenase (MCAD) gene in Brazil. 61 54
19551636 2009

Variations for Sudden Infant Death Syndrome

ClinVar genetic disease variations for Sudden Infant Death Syndrome:

6 (show all 46) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SCN5A NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln)SNV Pathogenic 39444 rs45546039 3:38655272-38655272 3:38613781-38613781
2 SCN5A NM_198056.2(SCN5A):c.1099C>T (p.Arg367Cys)SNV Pathogenic/Likely pathogenic 67633 rs199473097 3:38648201-38648201 3:38606710-38606710
3 SCN5A NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr)SNV risk factor 9393 rs7626962 3:38620907-38620907 3:38579416-38579416
4 SCN5A NM_198056.2(SCN5A):c.5795C>T (p.Ala1932Val)SNV Conflicting interpretations of pathogenicity 582721 rs371194826 3:38592068-38592068 3:38550577-38550577
5 GPD1L NM_015141.4(GPD1L):c.370A>G (p.Ile124Val)SNV Conflicting interpretations of pathogenicity 788 rs72552293 3:32181723-32181723 3:32140231-32140231
6 KCNQ1 NM_181798.1(KCNQ1):c.754T>C (p.Trp252Arg)SNV Conflicting interpretations of pathogenicity 67013 rs199472768 11:2608806-2608806 11:2587576-2587576
7 KCNQ1 NM_000218.3(KCNQ1):c.820A>G (p.Ile274Val)SNV Conflicting interpretations of pathogenicity 67109 rs199472728 11:2594115-2594115 11:2572885-2572885
8 KCNH2 NM_000238.4(KCNH2):c.2860C>T (p.Arg954Cys)SNV Conflicting interpretations of pathogenicity 67444 rs141401803 7:150644799-150644799 7:150947711-150947711
9 SCN5A NM_198056.2(SCN5A):c.1595T>G (p.Phe532Cys)SNV Conflicting interpretations of pathogenicity 67671 rs199473573 3:38645498-38645498 3:38604007-38604007
10 SCN5A NM_198056.2(SCN5A):c.5872C>T (p.Arg1958Ter)SNV Conflicting interpretations of pathogenicity 201546 rs757532106 3:38591991-38591991 3:38550500-38550500
11 SCN5A NM_198056.2(SCN5A):c.2924G>A (p.Arg975Gln)SNV Uncertain significance 201483 rs753149586 3:38622726-38622726 3:38581235-38581235
12 SCN5A NM_000335.5(SCN5A):c.5783G>A (p.Arg1928His)SNV Uncertain significance 179372 rs727504822 3:38592077-38592077 3:38550586-38550586
13 SCN5A NM_000335.5(SCN5A):c.152C>T (p.Ala51Val)SNV Uncertain significance 179791 rs727505131 3:38674647-38674647 3:38633156-38633156
14 SCN4B NM_174934.3(SCN4B):c.617C>T (p.Ser206Leu)SNV Uncertain significance 191380 rs140348243 11:118007812-118007812 11:118137097-118137097
15 SCN5A NM_198056.2(SCN5A):c.2399G>A (p.Arg800His)SNV Uncertain significance 222807 rs566251672 3:38628928-38628928 3:38587437-38587437
16 SCN5A NM_000335.5(SCN5A):c.2989G>A (p.Ala997Thr)SNV Uncertain significance 67771 rs137854609 3:38622661-38622661 3:38581170-38581170
17 SCN5A NM_198056.2(SCN5A):c.3118G>A (p.Gly1040Arg)SNV Uncertain significance 67779 rs199473186 3:38622532-38622532 3:38581041-38581041
18 KCNH2 NM_172057.2(KCNH2):c.2450C>T (p.Pro817Leu)SNV Uncertain significance 67499 rs143167166 7:150642463-150642463 7:150945375-150945375
19 SCN5A NM_000335.4(SCN5A):c.1282G>A (p.Glu428Lys)SNV Uncertain significance 30048 rs199473111 3:38647498-38647498 3:38606007-38606007
20 KCNH2 NM_172056.2(KCNH2):c.881G>T (p.Gly294Val)SNV Uncertain significance 67539 rs199473549 7:150655182-150655182 7:150958094-150958094
21 SCN5A NM_000335.5(SCN5A):c.3553G>A (p.Ala1185Thr)SNV Uncertain significance 67802 rs199473595 3:38616898-38616898 3:38575407-38575407
22 SCN5A NM_000335.5(SCN5A):c.4783T>A (p.Phe1595Ile)SNV Uncertain significance 67924 rs199473278 3:38595797-38595797 3:38554306-38554306
23 SCN5A NM_000335.4(SCN5A):c.5686C>T (p.Arg1896Trp)SNV Uncertain significance 68003 rs45465995 3:38592174-38592174 3:38550683-38550683
24 SCN5A NM_198056.2(SCN5A):c.5738G>A (p.Arg1913His)SNV Uncertain significance 68009 rs199473327 3:38592125-38592125 3:38550634-38550634
25 SCN5A NM_198056.2(SCN5A):c.5803G>A (p.Gly1935Ser)SNV Uncertain significance 68011 rs199473637 3:38592060-38592060 3:38550569-38550569
26 SCN5A NM_000335.5(SCN5A):c.5901C>G (p.Ile1967Met)SNV Uncertain significance 68018 rs199473333 3:38591959-38591959 3:38550468-38550468
27 SCN5A NM_000335.5(SCN5A):c.880G>A (p.Val294Met)SNV Uncertain significance 68054 rs199473086 3:38651279-38651279 3:38609788-38609788
28 KCNH2 NM_172057.2(KCNH2):c.1664C>T (p.Thr555Met)SNV Uncertain significance 67426 rs199473434 7:150645540-150645540 7:150948452-150948452
29 KCNQ1 NM_181798.1(KCNQ1):c.997G>A (p.Gly333Ser)SNV Uncertain significance 67031 rs199472783 11:2610069-2610069 11:2588839-2588839
30 SCN5A NM_000335.5(SCN5A):c.5474G>A (p.Arg1825His)SNV Uncertain significance 9389 rs137854610 3:38592386-38592386 3:38550895-38550895
31 SCN5A NM_198056.2(SCN5A):c.3080G>A (p.Arg1027Gln)SNV Uncertain significance 520458 rs763891399 3:38622570-38622570 3:38581079-38581079
32 MT-ND1 m.3308T>GSNV Likely benign 9729 rs28358582 MT:3308-3308 MT:3308-3308
33 SCN5A NM_000335.5(SCN5A):c.2039G>A (p.Arg680His)SNV Likely benign 67706 rs199473142 3:38639443-38639443 3:38597952-38597952
34 MT-ND1 m.3308T>CSNV Benign/Likely benign 9728 rs28358582 MT:3308-3308 MT:3308-3308
35 MT-TL1 m.3290T>CSNV Benign 9597 rs199474665 MT:3290-3290 MT:3290-3290
36 KCNJ8 NM_004982.4(KCNJ8):c.1001T>C (p.Val334Ala)SNV Benign 137998 rs34811413 12:21918931-21918931 12:21765997-21765997
37 KCNJ8 NM_004982.4(KCNJ8):c.793T>C (p.Leu265=)SNV Benign 221022 rs16924297 12:21919139-21919139 12:21766205-21766205
38 SCN5A NM_000335.4(SCN5A):c.5111T>C (p.Phe1704Ser)SNV not provided 67954 rs199473627 3:38592749-38592749 3:38551258-38551258
39 SCN5A NM_000335.4(SCN5A):c.4453T>C (p.Phe1485Leu)SNV not provided 67894 rs199473615 3:38597233-38597233 3:38555742-38555742
40 SCN5A NM_001160161.1(SCN5A):c.3228+1457G>ASNV not provided 67786 rs199473190 3:38620965-38620965 3:38579474-38579474
41 KCNH2 NM_172056.2(KCNH2):c.818G>A (p.Arg273Gln)SNV not provided 67531 rs199472877 7:150655245-150655245 7:150958157-150958157
42 KCNH2 NM_172056.2(KCNH2):c.835G>A (p.Val279Met)SNV not provided 67534 rs199472879 7:150655228-150655228 7:150958140-150958140
43 SCN5A NM_198056.2(SCN5A):c.1076C>A (p.Ala359Asp)SNV not provided 440929 rs1553704925 3:38648224-38648224 3:38606733-38606733
44 KCNQ1 NM_181798.1(KCNQ1):c.1369G>A (p.Gly457Ser)SNV not provided 67054 rs199472811 11:2799223-2799223 11:2777993-2777993
45 KCNQ1 NM_181798.1(KCNQ1):c.1412A>G (p.Lys471Arg)SNV not provided 67056 rs199472817 11:2799266-2799266 11:2778036-2778036
46 KCNH2 NM_172057.2(KCNH2):c.2098A>G (p.Ser700Gly)SNV not provided 67472 rs199473024 7:150644450-150644450 7:150947362-150947362

UniProtKB/Swiss-Prot genetic disease variations for Sudden Infant Death Syndrome:

# Symbol AA change Variation ID SNP ID
1 CAV3 p.Val14Leu VAR_043694 rs121909281
2 CAV3 p.Thr78Met VAR_043695 rs72546668
3 CAV3 p.Leu79Arg VAR_043696 rs121909282
4 KCNJ8 p.Val346Ile VAR_065879 rs147316959
5 SCN5A p.Ser1333Tyr VAR_036666 rs199473604
6 SCN5A p.Phe532Cys VAR_055177 rs199473573
7 SCN5A p.Gly1084Ser VAR_055185 rs199473190
8 SCN5A p.Phe1705Ser VAR_055207 rs199473627

Expression for Sudden Infant Death Syndrome

Search GEO for disease gene expression data for Sudden Infant Death Syndrome.

Pathways for Sudden Infant Death Syndrome

Pathways related to Sudden Infant Death Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
Show member pathways
Show member pathways
4 11.68 SLC6A4 HTR3A HTR2A HTR1A
5 11.48 TH EN1 CHAT
Show member pathways
Show member pathways
10.79 TH SLC6A4 HTR1A
10 10.51 TH CHAT

GO Terms for Sudden Infant Death Syndrome

Cellular components related to Sudden Infant Death Syndrome according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.27 SNTA1 SLC6A4 SCN5A SCN4B KCNQ1 KCNJ8
2 synapse GO:0045202 9.85 SNTA1 SLC6A4 HTR3A HTR2A HTR1A CHAT
3 neuron projection GO:0043005 9.72 TH SLC6A4 HTR3A CHAT ADCYAP1
4 voltage-gated potassium channel complex GO:0008076 9.61 KCNQ1 KCNJ8 KCNH2
5 caveola GO:0005901 9.58 SCN5A HTR2A CAV3
6 dystrophin-associated glycoprotein complex GO:0016010 9.48 SNTA1 CAV3
7 voltage-gated sodium channel complex GO:0001518 9.46 SCN5A SCN4B
8 integral component of presynaptic membrane GO:0099056 9.43 SLC6A4 HTR3A HTR2A
9 integral component of postsynaptic membrane GO:0099055 9.33 SLC6A4 HTR3A HTR2A
10 intercalated disc GO:0014704 9.13 SCN5A SCN4B CAV3
11 sarcolemma GO:0042383 8.92 SNTA1 SCN5A KCNJ8 CAV3

Biological processes related to Sudden Infant Death Syndrome according to GeneCards Suite gene sharing:

(show all 38)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 10.04 SCN5A SCN4B KCNQ1 KCNJ8 KCNH2 HTR3A
2 response to ethanol GO:0045471 9.85 TH HTR3A ADCYAP1
3 regulation of membrane potential GO:0042391 9.85 KCNH2 HTR3A CAV3
4 regulation of ion transmembrane transport GO:0034765 9.83 SCN5A SCN4B KCNQ1 KCNJ8 KCNH2
5 memory GO:0007613 9.82 TH SLC6A4 HTR2A
6 cellular response to drug GO:0035690 9.77 TH KCNQ1 KCNH2
7 social behavior GO:0035176 9.73 TH SLC6A4 EN1
8 cardiac conduction GO:0061337 9.72 SCN5A KCNQ1 KCNH2
9 cardiac muscle contraction GO:0060048 9.71 SCN5A SCN4B KCNQ1 KCNH2
10 regulation of heart contraction GO:0008016 9.7 TH KCNQ1 CAV3
11 regulation of sodium ion transmembrane transporter activity GO:2000649 9.69 SCN4B GPD1L CAV3
12 vasoconstriction GO:0042310 9.67 SLC6A4 HTR1A
13 membrane depolarization during action potential GO:0086010 9.67 SCN5A KCNH2
14 positive regulation of sodium ion transport GO:0010765 9.67 SCN5A SCN4B GPD1L
15 cardiac muscle cell action potential involved in contraction GO:0086002 9.66 SCN5A SCN4B
16 positive regulation of potassium ion transmembrane transport GO:1901381 9.66 KCNQ1 KCNH2
17 potassium ion export across plasma membrane GO:0097623 9.65 KCNQ1 KCNH2
18 behavior GO:0007610 9.65 HTR2A HTR1A
19 neurotransmitter biosynthetic process GO:0042136 9.65 TH SLC6A4 CHAT
20 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.64 SCN5A SCN4B
21 negative regulation of potassium ion transmembrane transport GO:1901380 9.64 KCNH2 CAV3
22 membrane repolarization GO:0086009 9.63 KCNQ1 KCNH2
23 regulation of membrane repolarization GO:0060306 9.63 KCNQ1 KCNH2
24 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.63 KCNQ1 KCNJ8 KCNH2
25 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.62 KCNQ1 KCNH2
26 negative regulation of potassium ion transport GO:0043267 9.62 HTR2A ADCYAP1
27 atrial cardiac muscle cell action potential GO:0086014 9.61 SCN5A KCNQ1
28 membrane repolarization during action potential GO:0086011 9.61 KCNQ1 KCNH2
29 regulation of sodium ion transmembrane transport GO:1902305 9.59 SNTA1 SCN5A
30 brainstem development GO:0003360 9.58 SCN5A PHOX2B
31 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.58 SCN5A KCNQ1
32 regulation of heart rate by cardiac conduction GO:0086091 9.56 SCN5A SCN4B KCNQ1 KCNH2
33 AV node cell action potential GO:0086016 9.54 SCN5A SCN4B
34 serotonin receptor signaling pathway GO:0007210 9.54 HTR3A HTR2A HTR1A
35 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.5 SCN5A GPD1L CAV3
36 regulation of heart rate GO:0002027 9.46 SNTA1 SCN5A GPD1L CAV3
37 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.43 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 CAV3
38 ventricular cardiac muscle cell action potential GO:0086005 9.1 SNTA1 SCN5A KCNQ1 KCNH2 GPD1L CAV3

Molecular functions related to Sudden Infant Death Syndrome according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.78 SCN5A KCNQ1 KCNH2 HTR3A
2 voltage-gated ion channel activity GO:0005244 9.72 SCN5A SCN4B KCNQ1 KCNJ8 KCNH2
3 neurotransmitter receptor activity GO:0030594 9.67 HTR3A HTR2A HTR1A
4 ion channel binding GO:0044325 9.63 SNTA1 SCN5A SCN4B KCNQ1 GPD1L CAV3
5 scaffold protein binding GO:0097110 9.61 SCN5A KCNQ1 KCNH2
6 sodium channel regulator activity GO:0017080 9.56 SNTA1 SCN4B GPD1L CAV3
7 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.54 KCNQ1 KCNJ8 KCNH2
8 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.46 KCNQ1 KCNH2
9 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.4 SCN5A SCN4B
10 nitric-oxide synthase binding GO:0050998 9.26 SNTA1 SLC6A4 SCN5A CAV3
11 serotonin binding GO:0051378 8.92 SLC6A4 HTR3A HTR2A HTR1A

Sources for Sudden Infant Death Syndrome

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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