SIDS
MCID: SDD001
MIFTS: 62

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 58 12 77 54 76 30 56 6 44 3 3 15 17 74
Sids 58 12 54 76 3
Sudden Infant Death Syndrome, Susceptibility to 58 13
Sudden Death of Nonspecific Cause in Infancy 12
Death, Sudden, Syndrome, Infant 41
Sudden Infant Death 45
Crib Death 12
Cot Death 12

Characteristics:

OMIM:

58
Inheritance:
? autosomal recessive form vs. multifactorial


HPO:

33
sudden infant death syndrome:
Clinical modifier sudden death
Inheritance autosomal recessive inheritance multifactorial inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:9007
OMIM 58 272120
ICD9CM 36 798.0
MeSH 45 D013398
NCIt 51 C85173
SNOMED-CT 69 51178009
ICD10 34 R95
MedGen 43 C0038644
UMLS 74 C0038644

Summaries for Sudden Infant Death Syndrome

MedlinePlus : 44 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 health care professionals don't know what causes SIDS, they do know ways 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 long qt syndrome and long qt syndrome 3, 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 Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways. The drugs Autonomic Agents and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include heart, brain and testes, 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 : 54 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 : 58 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 Babies receive multiple vaccines when they are between 2 to 4 months old. This age range is also the peak age for sudden infant death syndrome (SIDS). The timing of the 2 month and 4 month shots and SIDS has led some people to question whether they might be related. However, studies have found that vaccines do not cause and are not linked to SIDS.

UniProtKB/Swiss-Prot : 76 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 : 77 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 214)
# Related Disease Score Top Affiliating Genes
1 long qt syndrome 31.1 CAV3 GPD1L KCNH2 KCNQ1 SCN4B SCN5A
2 long qt syndrome 3 30.7 KCNH2 KCNQ1 SCN5A
3 syncope 30.5 KCNH2 KCNQ1 SCN5A
4 long qt syndrome 9 30.5 CAV3 SCN5A SNTA1
5 cardiac conduction defect 30.5 KCNH2 KCNQ1 SCN5A
6 ventricular fibrillation, paroxysmal familial, 1 30.5 KCNH2 KCNQ1 SCN5A
7 brugada syndrome 2 30.5 GPD1L SCN5A
8 cardiac arrhythmia 30.4 KCNH2 KCNQ1 SCN5A
9 cardiac arrest 30.3 KCNH2 KCNQ1 SCN5A
10 long qt syndrome 1 30.3 CAV3 KCNH2 KCNQ1 SCN4B SCN5A SNTA1
11 brugada syndrome 30.1 CAV3 GPD1L KCNH2 KCNJ8 KCNQ1 SCN4B
12 left ventricular noncompaction 29.7 KCNQ1 MT-ND1 SCN5A SNTA1
13 sudden infant death with dysgenesis of the testes syndrome 13.0
14 reye syndrome 11.5
15 infantile apnea 11.5
16 hyperekplexia 11.4
17 cardiomyopathy, infantile histiocytoid 11.4
18 mucopolysaccharidosis, type ii 11.3
19 mitochondrial trifunctional protein deficiency 11.1
20 coccidioidomycosis 11.1
21 brugada syndrome 1 10.5 KCNH2 KCNJ8 SCN5A
22 long qt syndrome 13 10.5 KCNH2 KCNQ1 SCN5A
23 hypoxia 10.5
24 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 10.5 KCNH2 KCNQ1 SCN5A
25 long qt syndrome 5 10.5 KCNH2 KCNQ1 SCN5A
26 long qt syndrome 6 10.5 KCNH2 KCNQ1 SCN5A
27 andersen cardiodysrhythmic periodic paralysis 10.5 KCNH2 KCNQ1 SCN5A
28 long qt syndrome 12 10.5 KCNH2 KCNQ1 SCN5A SNTA1
29 heart conduction disease 10.5 KCNH2 KCNQ1 SCN5A
30 familial short qt syndrome 10.5 KCNH2 KCNQ1
31 atrioventricular block 10.4 KCNH2 KCNQ1 SCN5A
32 familial atrial fibrillation 10.4 KCNH2 KCNQ1 SCN4B SCN5A
33 atrial fibrillation 10.4 KCNH2 KCNQ1 SCN4B SCN5A
34 intrinsic cardiomyopathy 10.4 KCNH2 KCNQ1 SCN5A
35 jervell and lange-nielsen syndrome 1 10.4 CAV3 KCNH2 KCNQ1 SCN4B SCN5A
36 long qt syndrome 2 10.4 CAV3 KCNH2 KCNQ1 SCN5A SNTA1
37 sleep apnea 10.4
38 pertussis 10.4
39 atypical depressive disorder 10.4 HTR2A SLC6A4
40 tetanus 10.3
41 diphtheria 10.3
42 post-traumatic stress disorder 10.3 ADCYAP1 HTR2A SLC6A4
43 megacolon 10.3 CHAT HTR2A PHOX2B
44 central nervous system disease 10.3 CHAT HTR2A SLC6A4 TH
45 psychosexual disorder 10.3 HTR2A SLC6A4
46 mood disorder 10.3 HTR2A SLC6A4 TH
47 gastroesophageal reflux 10.2
48 myocarditis 10.2
49 migraine with or without aura 1 10.2 ADCYAP1 HTR2A SLC6A4
50 coronary artery vasospasm 10.2 HTR2A KCNJ8

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:

33
# Description HPO Frequency HPO Source Accession
1 malignant hyperthermia 33 HP:0002047
2 apneic episodes in infancy 33 HP:0005949

Symptoms via clinical synopsis from OMIM:

58
Misc:
sudden infant death
malignant hyperthermia association

Resp:
periodic apnea

Clinical features from OMIM:

272120

UMLS symptoms related to Sudden Infant Death Syndrome:


apnea

MGI Mouse Phenotypes related to Sudden Infant Death Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.1 ADCYAP1 CHAT EN1 FEV HTR2A KCNQ1
2 cardiovascular system MP:0005385 10 ACADM CAV3 CHAT EN1 KCNH2 KCNJ8
3 homeostasis/metabolism MP:0005376 9.97 ACADM ADCYAP1 CAV3 CHAT EN1 FEV
4 muscle MP:0005369 9.7 ACADM ADCYAP1 CAV3 CHAT EN1 HTR2A
5 nervous system MP:0003631 9.36 ADCYAP1 CHAT EN1 FEV KCNQ1 PHOX2B

Drugs & Therapeutics for Sudden Infant Death Syndrome

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

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Autonomic Agents Phase 2, Phase 3
2 Neurotransmitter Agents Phase 2, Phase 3
3 Peripheral Nervous System Agents Phase 2, Phase 3
4
Nicotine Approved Phase 2,Not Applicable 54-11-5 89594 942
5 Central Nervous System Stimulants Phase 2
6 Nicotinic Agonists Phase 2
7 Cholinergic Agents Phase 2
8
Varenicline Approved, Investigational 249296-44-4 5310966
9
Sulfamethazine Approved, Investigational, Vet_approved Not Applicable 57-68-1 5327
10
Chlorhexidine Approved, Vet_approved 55-56-1 2713 9552079
11 Chlorhexidine gluconate
12
Serotonin Investigational, Nutraceutical Not Applicable 50-67-9 5202

Interventional clinical trials:

(show all 38)
# Name Status NCT ID Phase Drugs
1 Influence of Pacifiers on Breastfeeding Duration Completed NCT00306956 Phase 3
2 Labetalol Versus Magnesium Sulfate (MgSO4) for the Prevention of Eclampsia Trial Withdrawn NCT00293735 Phase 2, Phase 3 labetalol (seizure prevention);MgSO4 (seizure prevention)
3 Effectiveness of Nicotine Replacement Therapy in Reducing the Risk of Nicotine Exposure in Pregnant Minority Smokers Completed NCT00341432 Phase 2
4 Do Pacifiers Protect From Sudden Infant Death Syndrome (SIDS) Through an Increase in Upper Airway Patency? Unknown status NCT01120938
5 Optimizing Technology-Delivered Interventions for Smoking in Pregnancy: The Mommy Check-Up Study. Unknown status NCT02340624 Not Applicable
6 Factors Influencing the Racial Disparity in Sudden Infant Death Syndrome (SIDS) Completed NCT01361893 Not Applicable
7 Incidence and Severity of Cardiorespiratory Events in Infants at Increased Epidemiological Risk for Sudden Infant Death Syndrome (SIDS) Completed NCT00004392
8 Changes in Sleep Patterns and Stress in Infants Entering Child Care Completed NCT01265277
9 Comparing Children's Book to Brochures for Safe Sleep Education in a Home Visiting Program Completed NCT02376673 Not Applicable
10 Parental Knowledge and Beliefs About Infant Sleep Position Completed NCT00005567 Not Applicable
11 Enhancing Safe Sleep Practices of Urban Low-Income Mothers Completed NCT03070639 Not Applicable
12 Evaluation of Safe Sleep for Babies: a Bassinet Distribution and Education Program Completed NCT03392727 Not Applicable
13 Study of the Impact of Parental Note Taking on the Effectiveness of Anticipatory Guidance Completed NCT01014169 Not Applicable
14 Magnetic Resonance Imaging Autopsy Study Completed NCT01417962
15 Reduce African-American Infant Mortality Completed NCT01361880 Not Applicable
16 Pilot Study of Novel Postpartum Educational Video Intervention Completed NCT02267265 Not Applicable
17 Validation of a Non Invasive Blood Marker of SIDS and Vagal Disorders Completed NCT01358461
18 Impact of Smoke-free Legislation on Early-life Mortality and Low Birth Weight in England Completed NCT02039583
19 PRIDE: Preventing Respiratory Illnesses During Childhood Study Completed NCT00927264 Not Applicable
20 Reducing Environmental Tobacco Smoke in Neonatal Intensive Care Unit (NICU) Infants' Homes Completed NCT00670280 Not Applicable
21 Secondhand Smoke Exposure Reduction Among Young Children in China Completed NCT00995254 Not Applicable
22 "Anticipatory Guidance in the Nursery and Its Impact on Non-urgent Emergency Department Visits" Completed NCT01859065 Not Applicable
23 Characterization of Sweat Gland Function in Patients With Recessively Inherited Hypohidrotic Ectodermal Dysplasia Completed NCT01109290
24 Is Home Positioning Time Associated With Torticollis Rate of Recovery? Completed NCT00347334
25 Varenicline Pregnancy Cohort Study Completed NCT01290445 varenicline
26 Re-enforcing Safe Sleep Practices for Caregivers With Tangible Incentives Completed NCT02010450 Not Applicable
27 Baby Nutrition and Physical Activity Self-Assessment for Child Care (NAP SACC) Intervention Study Completed NCT01890681 Not Applicable
28 Assessing the Impact of Smoke-free Legislation on Perinatal Health in the Netherlands Completed NCT02189265
29 Apparent Life Threatening Events, Sudden Infant Death Syndrome and Muscarinic Receptors Recruiting NCT03278977 Not Applicable
30 Infant Care Practices Study Recruiting NCT03494621 Not Applicable
31 Generations in Families Talking Safe Sleep Recruiting NCT03186469 Not Applicable
32 Fetal Electrophysiologic Abnormalities in High-Risk Pregnancies Associated With Fetal Demise Recruiting NCT03775954
33 The Paediatric Virtual Autopsy Trial Recruiting NCT01888380 Not Applicable
34 Reducing Second-hand Smoke Exposure Among Young Children in Rural China Recruiting NCT03567512 Not Applicable
35 Brainstem and Prematurity Recruiting NCT02669056 Not Applicable
36 Efficacy of Non-Nutritive Sucking (NNS) on Balance and Gait Measured in 12-42 Month-Old Healthy Children Over 36 Months Enrolling by invitation NCT03801785 Not Applicable
37 Reducing Tobacco Exposures Among African American Women and Children Not yet recruiting NCT03476837 Not Applicable
38 The Inclined Position in Case of Respiratory Discomfort in the One Year Less Infant : Study on the Profits and the Risks in the Home Not yet recruiting NCT03482804

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 30 SCN5A

Anatomical Context for Sudden Infant Death Syndrome

MalaCards organs/tissues related to Sudden Infant Death Syndrome:

42
Heart, Brain, Testes, Prostate, Medulla Oblongata, Thyroid, Pituitary

Publications for Sudden Infant Death Syndrome

Articles related to Sudden Infant Death Syndrome:

(show top 50) (show all 3103)
# Title Authors Year
1
Tricuspid Valve Hemangioma Associated with Hypoplastic Left Heart Syndrome Presenting as Sudden Infant Death Syndrome. ( 28272668 )
2019
2
Noncardiac genetic predisposition in sudden infant death syndrome. ( 30139991 )
2019
3
Neuropathology of Early Sudden Infant Death Syndrome-Hypoplasia of the Pontine Kolliker-Fuse Nucleus: A Possible Marker of Unexpected Collapse during Skin-to-Skin Care. ( 30170332 )
2019
4
Can infant sleeping bags be recommended by medical professionals as protection against sudden infant death syndrome? ( 30297442 )
2019
5
The Sudden Infant Death Syndrome mechanism of death may be a non-septic hyper-dynamic shock. ( 30593418 )
2019
6
Cell death in the human infant central nervous system and in sudden infant death syndrome (SIDS). ( 30600425 )
2019
7
Evidence for an association of interferon gene variants with sudden infant death syndrome. ( 30617847 )
2019
8
Thymic changes and sudden infant death syndrome (SIDS). ( 30621883 )
2019
9
The α3 and α4 nicotinic acetylcholine receptor (nAChR) subunits in the brainstem medulla of sudden infant death syndrome (SIDS). ( 30665006 )
2019
10
Neonatal circumcision and prematurity are associated with sudden infant death syndrome (SIDS). ( 30873502 )
2019
11
Sudden infant death syndrome: current perspectives. ( 30957377 )
2019
12
Reappraisal of variants previously linked with sudden infant death syndrome: results from three population-based cohorts. ( 31043699 )
2019
13
Sudden infant death syndrome: the role of multidisciplinary teams. Experience of the SIDS-ALTE Center of Liguria Region. ( 29460552 )
2019
14
Impaired CO2-Induced Arousal in SIDS and SUDEP. ( 30905388 )
2019
15
Sudden infant death syndrome, attention-deficit/hyperactivity disorder and vaccines: Longitudinal population analyses. ( 29289380 )
2018
16
Retrospective Genetic Analysis of 200 Cases of Sudden Infant Death Syndrome and Its Relationship with Long QT Syndrome in Korea. ( 30079003 )
2018
17
Myopathy genes and SIDS. ( 29773693 )
2018
18
Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study. ( 29605429 )
2018
19
Analysis of sudden infant death syndrome coverage in Canadian newspapers. ( 29606014 )
2018
20
Sudden Infant Death Syndrome: A Global Public Health Issue and Nursing's Response. ( 29617167 )
2018
21
Central and peripheral chemoreceptors in sudden infant death syndrome. ( 29645275 )
2018
22
Is ambient air pollution associated with onset of sudden infant death syndrome: a case-crossover study in the UK. ( 29654005 )
2018
23
Neuronal noise as an origin of sleep arousals and its role in sudden infant death syndrome. ( 29707639 )
2018
24
Functional Invalidation of Putative Sudden Infant Death Syndrome-Associated Variants in the KCNH2-Encoded Kv11.1 Channel. ( 29752375 )
2018
25
Neuropathological Developments in Sudden Infant Death Syndrome. ( 29759045 )
2018
26
Sudden infant death syndrome: Knowledge and practise in parents of preterm infants. ( 29804322 )
2018
27
The potential role of substance P in brainstem homeostatic control in the pathogenesis of sudden infant death syndrome (SIDS). ( 29908886 )
2018
28
Functional implications of a rare variant in the sodium channel β1B subunit (SCN1B) in a 5-month-old male sudden infant death syndrome case. ( 29915715 )
2018
29
Ethnic variation in unexplained deaths in infancy, including sudden infant death syndrome (SIDS), England and Wales 2006-2012: national birth cohort study using routine data. ( 29973395 )
2018
30
Exome-Wide Rare Variant Analyses in Sudden Infant Death Syndrome. ( 30268395 )
2018
31
Preventing sudden infant death syndrome and other sleep-related infant deaths. ( 30303830 )
2018
32
Polymorphisms in the myeloid differentiation primary response 88 pathway do not explain low expression levels in sudden infant death syndrome. ( 30550627 )
2018
33
Research progress in stroke-induced immunodepression syndrome (SIDS) and stroke-associated pneumonia (SAP). ( 29317279 )
2018
34
Mothers' knowledge and attitudes to sudden infant death syndrome risk reduction messages: results from a UK survey. ( 28814422 )
2018
35
Risky Behaviors of Mothers with Infants on Sudden Infant Death Syndrome in Turkey. ( 29208338 )
2018
36
Is it Time for a Sudden Infant Death Syndrome (SIDS) Awareness Campaign? Community Stakeholders' Perceptions of SIDS. ( 29249897 )
2018
37
Cardiovascular autonomic dysfunction in sudden infant death syndrome. ( 29299712 )
2018
38
Functional characterization of a novel hERG variant in a family with recurrent sudden infant death syndrome: Retracting a genetic diagnosis. ( 29331839 )
2018
39
Medullary Astrogliosis in Sudden Infant Death Syndrome Varies With Sleeping Environment: Evidence for Different Mechanisms of Death in Alone Versus Co-sleepers? ( 29357731 )
2018
40
Association between histological alterations in the thymus and sudden infant death syndrome. ( 29438849 )
2018
41
A Context-Aware Indoor Air Quality System for Sudden Infant Death Syndrome Prevention. ( 29498653 )
2018
42
Sudden Infant Death Syndrome: A Review. ( 29538785 )
2018
43
Cardiac Genetic Predisposition in Sudden Infant Death Syndrome. ( 29544605 )
2018
44
Sudden Infant Death Syndrome and Genetics: Don't Throw Out the Infant With the Dirty Water. ( 29544606 )
2018
45
Multiple genetic variations in sodium channel subunits in a case of sudden infant death syndrome. ( 29572929 )
2018
46
SCN1A variants associated with sudden infant death syndrome. ( 29601086 )
2018
47
Skeletal muscle channelopathy: a new risk for sudden infant death syndrome. ( 29605428 )
2018
48
Transient Otoacoustic Emissions and Auditory Brainstem Responses in Low-Risk Cohort of Newborn and One-Month-Old Infants: Assessment of Infant Auditory System Physiology in the Prenatal Alcohol in SIDS and Stillbirth Network Safe Passage Study. ( 30222544 )
2018
49
WITHDRAWN: Abnormal Muscularization of Intra Acinar Pulmonary Arteries in 2 Cases Presenting as Sudden Infant Death (SIDS). ( 28382839 )
2018
50
The effect of body position on esophageal reflexes in cats: a possible mechanism of SIDS? ( 29166377 )
2018

Variations for Sudden Infant Death Syndrome

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

76
# 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

ClinVar genetic disease variations for Sudden Infant Death Syndrome:

6 (show top 50) (show all 94)
# Gene Variation Type Significance SNP ID Assembly Location
1 GPD1L NM_015141.3(GPD1L): c.370A> G (p.Ile124Val) single nucleotide variant Conflicting interpretations of pathogenicity rs72552293 GRCh37 Chromosome 3, 32181723: 32181723
2 GPD1L NM_015141.3(GPD1L): c.370A> G (p.Ile124Val) single nucleotide variant Conflicting interpretations of pathogenicity rs72552293 GRCh38 Chromosome 3, 32140231: 32140231
3 SCN5A NM_000335.4(SCN5A): c.5474G> A (p.Arg1825His) single nucleotide variant Uncertain significance rs137854610 GRCh37 Chromosome 3, 38592386: 38592386
4 SCN5A NM_000335.4(SCN5A): c.5474G> A (p.Arg1825His) single nucleotide variant Uncertain significance rs137854610 GRCh38 Chromosome 3, 38550895: 38550895
5 SCN5A NM_198056.2(SCN5A): c.3308C> A (p.Ser1103Tyr) single nucleotide variant risk factor rs7626962 GRCh37 Chromosome 3, 38620907: 38620907
6 SCN5A NM_198056.2(SCN5A): c.3308C> A (p.Ser1103Tyr) single nucleotide variant risk factor rs7626962 GRCh38 Chromosome 3, 38579416: 38579416
7 MT-TL1 m.3290T> C single nucleotide variant Pathogenic rs199474665 GRCh37 Chromosome MT, 3290: 3290
8 MT-TL1 m.3290T> C single nucleotide variant Pathogenic rs199474665 GRCh38 Chromosome MT, 3290: 3290
9 MT-ND1 m.3308T> C single nucleotide variant Likely benign rs28358582 GRCh37 Chromosome MT, 3308: 3308
10 MT-ND1 m.3308T> C single nucleotide variant Likely benign rs28358582 GRCh38 Chromosome MT, 3308: 3308
11 MT-ND1 m.3308T> G single nucleotide variant Pathogenic rs28358582 GRCh37 Chromosome MT, 3308: 3308
12 MT-ND1 m.3308T> G single nucleotide variant Pathogenic rs28358582 GRCh38 Chromosome MT, 3308: 3308
13 SCN5A NM_000335.4(SCN5A): c.1282G> A (p.Glu428Lys) single nucleotide variant Uncertain significance rs199473111 GRCh37 Chromosome 3, 38647498: 38647498
14 SCN5A NM_000335.4(SCN5A): c.1282G> A (p.Glu428Lys) single nucleotide variant Uncertain significance rs199473111 GRCh38 Chromosome 3, 38606007: 38606007
15 SCN5A NM_198056.2(SCN5A): c.665G> A (p.Arg222Gln) single nucleotide variant Pathogenic rs45546039 GRCh37 Chromosome 3, 38655272: 38655272
16 SCN5A NM_198056.2(SCN5A): c.665G> A (p.Arg222Gln) single nucleotide variant Pathogenic rs45546039 GRCh38 Chromosome 3, 38613781: 38613781
17 KCNQ1 NM_000218.2(KCNQ1): c.1135T> C (p.Trp379Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs199472768 GRCh37 Chromosome 11, 2608806: 2608806
18 KCNQ1 NM_000218.2(KCNQ1): c.1135T> C (p.Trp379Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs199472768 GRCh38 Chromosome 11, 2587576: 2587576
19 KCNQ1 NM_000218.2(KCNQ1): c.1378G> A (p.Gly460Ser) single nucleotide variant Uncertain significance rs199472783 GRCh37 Chromosome 11, 2610069: 2610069
20 KCNQ1 NM_000218.2(KCNQ1): c.1378G> A (p.Gly460Ser) single nucleotide variant Uncertain significance rs199472783 GRCh38 Chromosome 11, 2588839: 2588839
21 KCNQ1 NM_000218.2(KCNQ1): c.1750G> A (p.Gly584Ser) single nucleotide variant not provided rs199472811 GRCh37 Chromosome 11, 2799223: 2799223
22 KCNQ1 NM_000218.2(KCNQ1): c.1750G> A (p.Gly584Ser) single nucleotide variant not provided rs199472811 GRCh38 Chromosome 11, 2777993: 2777993
23 KCNQ1 NM_000218.2(KCNQ1): c.1793A> G (p.Lys598Arg) single nucleotide variant not provided rs199472817 GRCh37 Chromosome 11, 2799266: 2799266
24 KCNQ1 NM_000218.2(KCNQ1): c.1793A> G (p.Lys598Arg) single nucleotide variant not provided rs199472817 GRCh38 Chromosome 11, 2778036: 2778036
25 KCNQ1 NM_000218.2(KCNQ1): c.820A> G (p.Ile274Val) single nucleotide variant Conflicting interpretations of pathogenicity rs199472728 GRCh37 Chromosome 11, 2594115: 2594115
26 KCNQ1 NM_000218.2(KCNQ1): c.820A> G (p.Ile274Val) single nucleotide variant Conflicting interpretations of pathogenicity rs199472728 GRCh38 Chromosome 11, 2572885: 2572885
27 KCNH2 NM_000238.3(KCNH2): c.2684C> T (p.Thr895Met) single nucleotide variant Uncertain significance rs199473434 GRCh37 Chromosome 7, 150645540: 150645540
28 KCNH2 NM_000238.3(KCNH2): c.2684C> T (p.Thr895Met) single nucleotide variant Uncertain significance rs199473434 GRCh38 Chromosome 7, 150948452: 150948452
29 KCNH2 NM_000238.3(KCNH2): c.3118A> G (p.Ser1040Gly) single nucleotide variant not provided rs199473024 GRCh37 Chromosome 7, 150644450: 150644450
30 KCNH2 NM_000238.3(KCNH2): c.3118A> G (p.Ser1040Gly) single nucleotide variant not provided rs199473024 GRCh38 Chromosome 7, 150947362: 150947362
31 KCNH2 NM_000238.3(KCNH2): c.2860C> T (p.Arg954Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs141401803 GRCh37 Chromosome 7, 150644799: 150644799
32 KCNH2 NM_000238.3(KCNH2): c.2860C> T (p.Arg954Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs141401803 GRCh38 Chromosome 7, 150947711: 150947711
33 KCNH2 NM_000238.3(KCNH2): c.3470C> T (p.Pro1157Leu) single nucleotide variant Uncertain significance rs143167166 GRCh37 Chromosome 7, 150642463: 150642463
34 KCNH2 NM_000238.3(KCNH2): c.3470C> T (p.Pro1157Leu) single nucleotide variant Uncertain significance rs143167166 GRCh38 Chromosome 7, 150945375: 150945375
35 KCNH2 NM_000238.3(KCNH2): c.818G> A (p.Arg273Gln) single nucleotide variant not provided rs199472877 GRCh37 Chromosome 7, 150655245: 150655245
36 KCNH2 NM_000238.3(KCNH2): c.818G> A (p.Arg273Gln) single nucleotide variant not provided rs199472877 GRCh38 Chromosome 7, 150958157: 150958157
37 KCNH2 NM_000238.3(KCNH2): c.835G> A (p.Val279Met) single nucleotide variant not provided rs199472879 GRCh37 Chromosome 7, 150655228: 150655228
38 KCNH2 NM_000238.3(KCNH2): c.835G> A (p.Val279Met) single nucleotide variant not provided rs199472879 GRCh38 Chromosome 7, 150958140: 150958140
39 KCNH2 NM_000238.3(KCNH2): c.881G> T (p.Gly294Val) single nucleotide variant Uncertain significance rs199473549 GRCh37 Chromosome 7, 150655182: 150655182
40 KCNH2 NM_000238.3(KCNH2): c.881G> T (p.Gly294Val) single nucleotide variant Uncertain significance rs199473549 GRCh38 Chromosome 7, 150958094: 150958094
41 SCN5A NM_198056.2(SCN5A): c.1099C> T (p.Arg367Cys) single nucleotide variant Pathogenic/Likely pathogenic rs199473097 GRCh37 Chromosome 3, 38648201: 38648201
42 SCN5A NM_198056.2(SCN5A): c.1099C> T (p.Arg367Cys) single nucleotide variant Pathogenic/Likely pathogenic rs199473097 GRCh38 Chromosome 3, 38606710: 38606710
43 SCN5A NM_198056.2(SCN5A): c.1595T> G (p.Phe532Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199473573 GRCh37 Chromosome 3, 38645498: 38645498
44 SCN5A NM_198056.2(SCN5A): c.1595T> G (p.Phe532Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199473573 GRCh38 Chromosome 3, 38604007: 38604007
45 SCN5A NM_198056.2(SCN5A): c.2039G> A (p.Arg680His) single nucleotide variant Likely benign rs199473142 GRCh37 Chromosome 3, 38639443: 38639443
46 SCN5A NM_198056.2(SCN5A): c.2039G> A (p.Arg680His) single nucleotide variant Likely benign rs199473142 GRCh38 Chromosome 3, 38597952: 38597952
47 SCN5A NM_198056.2(SCN5A): c.2989G> A (p.Ala997Thr) single nucleotide variant Uncertain significance rs137854609 GRCh37 Chromosome 3, 38622661: 38622661
48 SCN5A NM_198056.2(SCN5A): c.2989G> A (p.Ala997Thr) single nucleotide variant Uncertain significance rs137854609 GRCh38 Chromosome 3, 38581170: 38581170
49 SCN5A NM_198056.2(SCN5A): c.2989G> A (p.Ala997Thr) single nucleotide variant Uncertain significance rs137854609 NCBI36 Chromosome 3, 38597665: 38597665
50 SCN5A NM_198056.2(SCN5A): c.3118G> A (p.Gly1040Arg) single nucleotide variant Uncertain significance rs199473186 GRCh37 Chromosome 3, 38622532: 38622532

Expression for Sudden Infant Death Syndrome

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

Pathways for Sudden Infant Death Syndrome

GO Terms for Sudden Infant Death Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 voltage-gated potassium channel complex GO:0008076 9.5 KCNH2 KCNJ8 KCNQ1
2 dystrophin-associated glycoprotein complex GO:0016010 9.4 CAV3 SNTA1
3 voltage-gated sodium channel complex GO:0001518 9.37 SCN4B SCN5A
4 caveola GO:0005901 9.33 CAV3 HTR2A SCN5A
5 intercalated disc GO:0014704 9.13 CAV3 SCN4B SCN5A
6 cell body fiber GO:0070852 8.96 HTR2A
7 sarcolemma GO:0042383 8.92 CAV3 KCNJ8 SCN5A SNTA1

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

(show all 35)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.96 HTR2A MT-ND1 SLC6A4 TH
2 potassium ion transmembrane transport GO:0071805 9.84 KCNH2 KCNJ8 KCNQ1
3 regulation of ion transmembrane transport GO:0034765 9.83 KCNH2 KCNJ8 KCNQ1 SCN4B SCN5A
4 memory GO:0007613 9.79 HTR2A SLC6A4 TH
5 cellular response to drug GO:0035690 9.75 KCNH2 KCNQ1 TH
6 social behavior GO:0035176 9.72 EN1 SLC6A4 TH
7 regulation of heart contraction GO:0008016 9.69 CAV3 KCNQ1 TH
8 regulation of sodium ion transmembrane transporter activity GO:2000649 9.67 CAV3 GPD1L SCN4B
9 dopaminergic neuron differentiation GO:0071542 9.66 EN1 PHOX2B
10 cardiac muscle cell action potential involved in contraction GO:0086002 9.65 SCN4B SCN5A
11 membrane depolarization during action potential GO:0086010 9.65 KCNH2 SCN5A
12 positive regulation of sodium ion transport GO:0010765 9.65 GPD1L SCN4B SCN5A
13 positive regulation of potassium ion transmembrane transport GO:1901381 9.64 KCNH2 KCNQ1
14 potassium ion export across plasma membrane GO:0097623 9.64 KCNH2 KCNQ1
15 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.63 SCN4B SCN5A
16 regulation of membrane repolarization GO:0060306 9.63 KCNH2 KCNQ1
17 neurotransmitter biosynthetic process GO:0042136 9.63 CHAT SLC6A4 TH
18 membrane repolarization GO:0086009 9.62 KCNH2 KCNQ1
19 negative regulation of potassium ion transmembrane transport GO:1901380 9.62 CAV3 KCNH2
20 cardiac muscle contraction GO:0060048 9.62 KCNH2 KCNQ1 SCN4B SCN5A
21 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.61 KCNH2 KCNQ1
22 negative regulation of potassium ion transport GO:0043267 9.6 ADCYAP1 HTR2A
23 atrial cardiac muscle cell action potential GO:0086014 9.59 KCNQ1 SCN5A
24 membrane repolarization during action potential GO:0086011 9.58 KCNH2 KCNQ1
25 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.58 KCNH2 KCNJ8 KCNQ1
26 regulation of sodium ion transmembrane transport GO:1902305 9.57 SCN5A SNTA1
27 brainstem development GO:0003360 9.56 PHOX2B SCN5A
28 regulation of heart rate by cardiac conduction GO:0086091 9.56 KCNH2 KCNQ1 SCN4B SCN5A
29 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.54 KCNQ1 SCN5A
30 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.54 CAV3 GPD1L SCN5A
31 AV node cell action potential GO:0086016 9.52 SCN4B SCN5A
32 regulation of heart rate GO:0002027 9.46 CAV3 GPD1L SCN5A SNTA1
33 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.43 CAV3 KCNH2 KCNQ1 SCN4B SCN5A SNTA1
34 ventricular cardiac muscle cell action potential GO:0086005 9.1 CAV3 GPD1L KCNH2 KCNQ1 SCN5A SNTA1
35 ion transport GO:0006811 10.06 KCNH2 KCNJ8 KCNQ1 SCN4B SCN5A

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 voltage-gated ion channel activity GO:0005244 9.65 KCNH2 KCNJ8 KCNQ1 SCN4B SCN5A
2 scaffold protein binding GO:0097110 9.58 KCNH2 KCNQ1 SCN5A
3 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.5 KCNH2 KCNJ8 KCNQ1
4 inward rectifier potassium channel activity GO:0005242 9.49 KCNH2 KCNJ8
5 voltage-gated sodium channel activity GO:0005248 9.48 SCN4B SCN5A
6 serotonin binding GO:0051378 9.46 HTR2A SLC6A4
7 sodium channel regulator activity GO:0017080 9.46 CAV3 GPD1L SCN4B SNTA1
8 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.43 KCNH2 KCNQ1
9 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.37 SCN4B SCN5A
10 nitric-oxide synthase binding GO:0050998 9.26 CAV3 SCN5A SLC6A4 SNTA1
11 ion channel binding GO:0044325 9.1 CAV3 GPD1L KCNQ1 SCN4B SCN5A SNTA1

Sources for Sudden Infant Death Syndrome

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
32 HMDB
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70 SNOMED-CT via HPO
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