MCID: SDD001
MIFTS: 60

Sudden Infant Death Syndrome

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Sudden Infant Death Syndrome

MalaCards integrated aliases for Sudden Infant Death Syndrome:

Name: Sudden Infant Death Syndrome 57 12 76 53 75 29 55 6 43 3 3 15 73
Sids 57 12 53 75 3
Sudden Infant Death Syndrome, Susceptibility to 57 13
Sudden Death of Nonspecific Cause in Infancy 12
Death, Sudden, Syndrome, Infant 40
Sudden Infant Death 44
Crib Death 12
Cot Death 12

Characteristics:

OMIM:

57
Inheritance:
? autosomal recessive form vs. multifactorial


HPO:

32
sudden infant death syndrome:
Mortality/Aging sudden death


Classifications:



External Ids:

OMIM 57 272120
Disease Ontology 12 DOID:9007
ICD9CM 35 798.0
MeSH 44 D013398
NCIt 50 C85173
MedGen 42 C0038644
ICD10 33 R95
SNOMED-CT via HPO 69 26636000
UMLS 73 C0038644

Summaries for Sudden Infant Death Syndrome

MedlinePlus : 43 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 cardiac arrhythmia and long qt 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 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 brain, heart and lung, and related phenotypes are apneic episodes in infancy and behavior/neurological

OMIM : 57 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)

UniProtKB/Swiss-Prot : 75 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.

NIH Rare Diseases : 53 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.

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.

Wikipedia : 76 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 109)
# Related Disease Score Top Affiliating Genes
1 cardiac arrhythmia 31.6 KCNH2 KCNQ1 SCN5A
2 long qt syndrome 31.4 CAV3 GPD1L KCNH2 KCNQ1 SCN4B SCN5A
3 cardiac conduction defect 31.2 KCNH2 KCNQ1 SCN5A
4 brugada syndrome 30.4 CAV3 GPD1L KCNH2 KCNJ8 KCNQ1 SCN4B
5 sudden infant death with dysgenesis of the testes syndrome 12.8
6 hyperekplexia 11.3
7 reye syndrome 11.3
8 infantile apnea 11.3
9 cardiomyopathy, infantile histiocytoid 11.2
10 brugada syndrome 1 11.1 KCNH2 KCNJ8 SCN5A
11 long qt syndrome 13 11.1 KCNH2 KCNQ1 SCN5A
12 long qt syndrome 9 11.1 CAV3 SCN5A SNTA1
13 long qt syndrome 3 11.1 KCNH2 KCNQ1 SCN5A
14 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 11.1 KCNH2 KCNQ1 SCN5A
15 syncope 11.1 KCNH2 KCNQ1 SCN5A
16 long qt syndrome 5 11.0 KCNH2 KCNQ1 SCN5A
17 ventricular fibrillation, paroxysmal familial, 1 11.0 KCNH2 KCNQ1 SCN5A
18 long qt syndrome 6 11.0 KCNH2 KCNQ1 SCN5A
19 long qt syndrome 12 11.0 KCNH2 KCNQ1 SCN5A SNTA1
20 andersen cardiodysrhythmic periodic paralysis 11.0 KCNH2 KCNQ1 SCN5A
21 heart conduction disease 11.0 KCNH2 KCNQ1 SCN5A
22 intrinsic cardiomyopathy 10.9 KCNH2 KCNQ1 SCN5A
23 brugada syndrome 2 10.9 GPD1L SCN5A
24 familial atrial fibrillation 10.9 KCNH2 KCNQ1 SCN4B SCN5A
25 atrioventricular block 10.9 KCNH2 KCNQ1 SCN5A
26 jervell and lange-nielsen syndrome 1 10.9 CAV3 KCNH2 KCNQ1 SCN4B SCN5A
27 long qt syndrome 2 10.9 CAV3 KCNH2 KCNQ1 SCN5A SNTA1
28 familial short qt syndrome 10.9 KCNH2 KCNQ1
29 alzheimer disease 5 10.8 HTR2A SLC6A4
30 early-onset schizophrenia 10.8 HTR2A SLC6A4 TH
31 atrial fibrillation 10.8 KCNH2 KCNQ1 SCN4B SCN5A
32 long qt syndrome 1 10.8 CAV3 KCNH2 KCNQ1 SCN4B SCN5A SNTA1
33 megacolon 10.7 CHAT HTR2A PHOX2B
34 post-traumatic stress disorder 10.7 ADCYAP1 HTR2A SLC6A4
35 psychosexual disorder 10.5 HTR2A SLC6A4
36 mood disorder 10.5 HTR2A SLC6A4 TH
37 neuronitis 10.3
38 hypoxia 10.3
39 alcoholic psychosis 10.2 HTR2A SLC6A4
40 aging 10.1
41 laryngitis 10.1
42 left ventricular noncompaction 10.0 KCNQ1 MT-ND1 SCN5A SNTA1
43 central hypoventilation syndrome, congenital 10.0
44 infant botulism 10.0
45 mucositis 10.0
46 myocarditis 10.0
47 acyl-coa dehydrogenase, medium-chain, deficiency of 9.9
48 cerebritis 9.9
49 autism 9.9
50 hypophosphatemia 9.9

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

Symptoms via clinical synopsis from OMIM:

57
Misc:
sudden infant death
malignant hyperthermia association

Resp:
periodic apnea


Clinical features from OMIM:

272120

Human phenotypes related to Sudden Infant Death Syndrome:

32
# Description HPO Frequency HPO Source Accession
1 apneic episodes in infancy 32 HP:0005949

UMLS symptoms related to Sudden Infant Death Syndrome:


apnea

MGI Mouse Phenotypes related to Sudden Infant Death Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.06 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 KCNQ1 SCN5A SLC6A4 SNTA1 ACADM ADCYAP1
5 nervous system MP:0003631 9.32 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 9)
# 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 54-11-5 942 89594
5 Central Nervous System Stimulants Phase 2
6 Cholinergic Agents Phase 2
7 Nicotinic Agonists Phase 2
8
Varenicline Approved, Investigational 249296-44-4 5310966
9
Serotonin Investigational, Nutraceutical Not Applicable 50-67-9 5202

Interventional clinical trials:

(show all 36)
# 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 Comparing Children's Book to Brochures for Safe Sleep Education in a Home Visiting Program Completed NCT02376673 Not Applicable
9 Parental Knowledge and Beliefs About Infant Sleep Position Completed NCT00005567 Not Applicable
10 Enhancing Safe Sleep Practices of Urban Low-Income Mothers Completed NCT03070639 Not Applicable
11 Study of the Impact of Parental Note Taking on the Effectiveness of Anticipatory Guidance Completed NCT01014169 Not Applicable
12 Magnetic Resonance Imaging Autopsy Study Completed NCT01417962
13 Reduce African-American Infant Mortality Completed NCT01361880 Not Applicable
14 Pilot Study of Novel Postpartum Educational Video Intervention Completed NCT02267265 Not Applicable
15 Validation of a Non Invasive Blood Marker of SIDS and Vagal Disorders Completed NCT01358461
16 Impact of Smoke-free Legislation on Early-life Mortality and Low Birth Weight in England Completed NCT02039583
17 PRIDE: Preventing Respiratory Illnesses During Childhood Study Completed NCT00927264 Not Applicable
18 Reducing Environmental Tobacco Smoke in Neonatal Intensive Care Unit (NICU) Infants' Homes Completed NCT00670280 Not Applicable
19 Secondhand Smoke Exposure Reduction Among Young Children in China Completed NCT00995254 Not Applicable
20 "Anticipatory Guidance in the Nursery and Its Impact on Non-urgent Emergency Department Visits" Completed NCT01859065 Not Applicable
21 Characterization of Sweat Gland Function in Patients With Recessively Inherited Hypohidrotic Ectodermal Dysplasia Completed NCT01109290
22 Is Home Positioning Time Associated With Torticollis Rate of Recovery? Completed NCT00347334
23 Re-enforcing Safe Sleep Practices for Caregivers With Tangible Incentives Completed NCT02010450 Not Applicable
24 Assessing the Impact of Smoke-free Legislation on Perinatal Health in the Netherlands Completed NCT02189265
25 Varenicline Pregnancy Cohort Study Completed NCT01290445 varenicline
26 Apparent Life Threatening Events, Sudden Infant Death Syndrome and Muscarinic Receptors Recruiting NCT03278977 Not Applicable
27 Infant Care Practices Study Recruiting NCT03494621 Not Applicable
28 Evaluation of Safe Sleep for Babies: a Bassinet Distribution and Education Program Recruiting NCT03392727 Not Applicable
29 Generations in Families Talking Safe Sleep Recruiting NCT03186469 Not Applicable
30 The Paediatric Virtual Autopsy Trial Recruiting NCT01888380 Not Applicable
31 Reducing Second-hand Smoke Exposure Among Young Children in Rural China Recruiting NCT03567512 Not Applicable
32 Brainstem and Prematurity Recruiting NCT02669056 Not Applicable
33 Baby Nutrition and Physical Activity Self-Assessment for Child Care (NAP SACC) Intervention Study Active, not recruiting NCT01890681 Not Applicable
34 Changes in Sleep Patterns and Stress in Infants Entering Child Care Enrolling by invitation NCT01265277
35 Reducing Tobacco Exposures Among African American Women and Children Not yet recruiting NCT03476837 Not Applicable
36 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 29 SCN5A

Anatomical Context for Sudden Infant Death Syndrome

MalaCards organs/tissues related to Sudden Infant Death Syndrome:

41
Brain, Heart, Lung, Liver, Medulla Oblongata, Pituitary, Hypothalamus

Publications for Sudden Infant Death Syndrome

Articles related to Sudden Infant Death Syndrome:

(show top 50) (show all 807)
# Title Authors Year
1
Association between histological alterations in the thymus and sudden infant death syndrome. ( 29438849 )
2018
2
Is it Time for a Sudden Infant Death Syndrome (SIDS) Awareness Campaign? Community Stakeholders' Perceptions of SIDS. ( 29249897 )
2018
3
A Context-Aware Indoor Air Quality System for Sudden Infant Death Syndrome Prevention. ( 29498653 )
2018
4
The potential role of substance P in brainstem homeostatic control in the pathogenesis of sudden infant death syndrome (SIDS). ( 29908886 )
2018
5
Central and peripheral chemoreceptors in sudden infant death syndrome. ( 29645275 )
2018
6
Sudden Infant Death Syndrome andA Genetics: Don't Throw Out the Infant With the Dirty Water. ( 29544606 )
2018
7
Multiple genetic variations in sodium channel subunits in a case of sudden infant death syndrome. ( 29572929 )
2018
8
Functional Invalidation of Putative Sudden Infant Death Syndrome-Associated Variants in the <i>KCNH2</i>-Encoded Kv11.1 Channel. ( 29752375 )
2018
9
Functional implications of a rare variant in the sodium channel I^1B subunit (<i>SCN1B</i>) in a 5-month-old male sudden infant death syndrome case. ( 29915715 )
2018
10
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
11
Neuronal noise as an origin of sleep arousals and its role in sudden infant death syndrome. ( 29707639 )
2018
12
Sudden infant death syndrome, attention-deficit/hyperactivity disorder and vaccines: Longitudinal population analyses. ( 29289380 )
2018
13
Cardiovascular autonomic dysfunction in sudden infant death syndrome. ( 29299712 )
2018
14
Analysis of sudden infant death syndrome coverage in Canadian newspapers. ( 29606014 )
2018
15
Is ambient air pollution associated with onset of sudden infant death syndrome: a case-crossover study in the UK. ( 29654005 )
2018
16
Skeletal muscle channelopathy: a new risk for sudden infant death syndrome. ( 29605428 )
2018
17
Sudden Infant Death Syndrome: A Global Public Health Issue and Nursing's Response. ( 29617167 )
2018
18
Functional characterization of a novel hERG variant in a family with recurrent sudden infant death syndrome: Retracting a genetic diagnosis. ( 29331839 )
2018
19
SCN1A variants associated with sudden infant death syndrome. ( 29601086 )
2018
20
Neuropathological Developments in Sudden Infant Death Syndrome. ( 29759045 )
2018
21
Mothers' knowledge and attitudes to sudden infant death syndrome risk reduction messages: results from a UK survey. ( 28814422 )
2018
22
Risky Behaviors of Mothers with Infants on Sudden Infant Death Syndrome in Turkey. ( 29208338 )
2018
23
Sudden infant death syndrome: Knowledge and practise in parents of preterm infants. ( 29804322 )
2018
24
Medullary Astrogliosis in Sudden Infant Death Syndrome Varies With Sleeping Environment: Evidence for Different Mechanisms of Death in Alone Versus Co-sleepers? ( 29357731 )
2018
25
Sudden Infant Death Syndrome (SIDS): the role of multidisciplinary teams experience of the SIDS-ALTE Center of Regione Liguria. ( 29460552 )
2018
26
Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study. ( 29605429 )
2018
27
Sudden Infant Death Syndrome: A Review. ( 29538785 )
2018
28
Intestinal Microbiota Composition in Sudden Infant Death Syndrome and Age-Matched Controls. ( 29173325 )
2017
29
Targeted Metabolic Profiling of Post-Mortem Brain from Infants Who Died from Sudden Infant Death Syndrome. ( 28608686 )
2017
30
Sudden Infant Death Syndrome, Infection, Prone Sleep Position, and Vagal Neuroimmunology. ( 29184885 )
2017
31
Pituitary adenylate cyclase activating polypeptide (PACAP) and its receptor 1 (PAC1) in the human infant brain and changes in the Sudden Infant Death Syndrome (SIDS). ( 28392470 )
2017
32
Tricuspid Valve Hemangioma Associated with Hypoplastic Left Heart Syndrome Presenting as Sudden Infant Death Syndrome. ( 28272668 )
2017
33
Medullary Serotonin Neuron Abnormalities in an Australian Cohort of Sudden Infant Death Syndrome. ( 28922849 )
2017
34
Sudden infant death syndrome and inherited cardiac conditions. ( 28880023 )
2017
35
Editorial: New Approaches to the Pathogenesis of Sudden Intrauterine Unexplained Death and Sudden Infant Death Syndrome. ( 28959229 )
2017
36
Reducing the Risk of Sudden Infant Death Syndrome. ( 28166332 )
2017
37
Abnormalities in substance P neurokinin-1 receptor binding in key brainstem nuclei in sudden infant death syndrome related to prematurity and sex. ( 28931039 )
2017
38
Ambient Temperature and Sudden Infant Death Syndrome in the United States. ( 28661937 )
2017
39
Paediatricians' Practice About SUDDEN Infant Death Syndrome in Catalonia, Spain. ( 28160232 )
2017
40
Parent-infant co-sleeping and the implications for sudden infant death syndrome. ( 29206359 )
2017
41
Post-mortem whole-exome analysis in a large sudden infant death syndrome cohort with a focus on cardiovascular and metabolic genetic diseases. ( 28074886 )
2017
42
Sudden infant death syndrome - A medical mystery. ( 28955098 )
2017
43
Low cerebrospinal fluid hypocretin levels during sudden infant death syndrome (SIDS) risk period. ( 28449906 )
2017
44
The gene encoding the inwardly rectifying potassium channel Kir4.1 may be involved in sudden infant death syndrome. ( 28520217 )
2017
45
In-utero exposure to nicotine alters the development of the rabbit cardiac conduction system and provides a potential mechanism for sudden infant death syndrome. ( 28593499 )
2017
46
Sudden infant death syndrome due to long QT syndrome: a brief review of the genetic substrate and prevalence. ( 28316956 )
2017
47
Infant pacifiers for reduction in risk of sudden infant death syndrome. ( 28378502 )
2017
48
Beyond &amp;quot;Back to Sleep&amp;quot;: Ways to Further Reduce the Risk of Sudden Infant Death Syndrome. ( 28806464 )
2017
49
High serum serotonin in sudden infant death syndrome. ( 28674018 )
2017
50
Evolution and significance of the triple risk model in sudden infant death syndrome. ( 28028890 )
2016

Variations for Sudden Infant Death Syndrome

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

75 (show all 11)
# 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 GPD1L p.Glu83Lys VAR_044044 rs72552292
5 GPD1L p.Ile124Val VAR_044045 rs72552293
6 GPD1L p.Arg273Cys VAR_044046 rs72552294
7 KCNJ8 p.Val346Ile VAR_065879 rs147316959
8 SCN5A p.Ser1333Tyr VAR_036666 rs199473604
9 SCN5A p.Phe532Cys VAR_055177 rs199473573
10 SCN5A p.Gly1084Ser VAR_055185 rs199473190
11 SCN5A p.Phe1705Ser VAR_055207 rs199473627

ClinVar genetic disease variations for Sudden Infant Death Syndrome:

6
(show all 13)
# Gene Variation Type Significance SNP ID Assembly Location
1 MT-TL1 m.3290T> C single nucleotide variant Pathogenic rs199474665 GRCh38 Chromosome MT, 3290: 3290
2 MT-TL1 m.3290T> C single nucleotide variant Pathogenic rs199474665 GRCh37 Chromosome MT, 3290: 3290
3 SCN5A NM_198056.2(SCN5A): c.3308C> A (p.Ser1103Tyr) single nucleotide variant risk factor rs7626962 GRCh37 Chromosome 3, 38620907: 38620907
4 SCN5A NM_198056.2(SCN5A): c.3308C> A (p.Ser1103Tyr) single nucleotide variant risk factor rs7626962 GRCh38 Chromosome 3, 38579416: 38579416
5 MT-ND1 m.3308T> G single nucleotide variant Pathogenic rs28358582 GRCh37 Chromosome MT, 3308: 3308
6 MT-ND1 m.3308T> G single nucleotide variant Pathogenic rs28358582 GRCh38 Chromosome MT, 3308: 3308
7 SCN4B NM_174934.3(SCN4B): c.617C> T (p.Ser206Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs140348243 GRCh38 Chromosome 11, 118137097: 118137097
8 SCN4B NM_174934.3(SCN4B): c.617C> T (p.Ser206Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs140348243 GRCh37 Chromosome 11, 118007812: 118007812
9 SCN4B NM_174934.3(SCN4B): c.617C> T (p.Ser206Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs140348243 NCBI36 Chromosome 11, 117513022: 117513022
10 KCNJ8 NM_004982.3(KCNJ8): c.793T> C (p.Leu265=) single nucleotide variant Benign rs16924297 GRCh37 Chromosome 12, 21919139: 21919139
11 KCNJ8 NM_004982.3(KCNJ8): c.793T> C (p.Leu265=) single nucleotide variant Benign rs16924297 GRCh38 Chromosome 12, 21766205: 21766205
12 SCN5A NM_198056.2(SCN5A): c.1076C> A (p.Ala359Asp) single nucleotide variant not provided GRCh37 Chromosome 3, 38648224: 38648224
13 SCN5A NM_198056.2(SCN5A): c.1076C> A (p.Ala359Asp) single nucleotide variant not provided GRCh38 Chromosome 3, 38606733: 38606733

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 9.43 KCNH2 KCNJ8 KCNQ1
2 caveola GO:0005901 9.33 CAV3 HTR2A SCN5A
3 voltage-gated sodium channel complex GO:0001518 9.32 SCN4B SCN5A
4 intercalated disc GO:0014704 9.13 CAV3 SCN4B SCN5A
5 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 34)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.96 HTR2A MT-ND1 SLC6A4 TH
2 regulation of ion transmembrane transport GO:0034765 9.83 KCNH2 KCNJ8 KCNQ1 SCN4B SCN5A
3 memory GO:0007613 9.8 HTR2A SLC6A4 TH
4 cellular response to drug GO:0035690 9.77 KCNH2 KCNQ1 TH
5 social behavior GO:0035176 9.73 EN1 SLC6A4 TH
6 cardiac conduction GO:0061337 9.72 KCNH2 KCNQ1 SCN5A
7 cardiac muscle contraction GO:0060048 9.71 KCNH2 KCNQ1 SCN4B SCN5A
8 regulation of heart contraction GO:0008016 9.69 CAV3 KCNQ1 TH
9 regulation of sodium ion transmembrane transporter activity GO:2000649 9.67 CAV3 GPD1L SCN4B
10 cardiac muscle cell action potential involved in contraction GO:0086002 9.65 SCN4B SCN5A
11 positive regulation of potassium ion transmembrane transport GO:1901381 9.65 KCNH2 KCNQ1
12 regulation of membrane repolarization GO:0060306 9.65 KCNH2 KCNQ1
13 positive regulation of sodium ion transport GO:0010765 9.65 GPD1L SCN4B SCN5A
14 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.64 SCN4B SCN5A
15 membrane repolarization GO:0086009 9.64 KCNH2 KCNQ1
16 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.63 KCNH2 KCNQ1
17 negative regulation of potassium ion transport GO:0043267 9.63 ADCYAP1 HTR2A
18 neurotransmitter biosynthetic process GO:0042136 9.63 CHAT SLC6A4 TH
19 atrial cardiac muscle cell action potential GO:0086014 9.62 KCNQ1 SCN5A
20 potassium ion export GO:0071435 9.61 KCNH2 KCNQ1
21 negative regulation of potassium ion transmembrane transport GO:1901380 9.61 CAV3 KCNH2
22 regulation of sodium ion transmembrane transport GO:1902305 9.59 SCN5A SNTA1
23 brainstem development GO:0003360 9.58 PHOX2B SCN5A
24 membrane repolarization during action potential GO:0086011 9.58 KCNH2 KCNQ1
25 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.57 KCNQ1 SCN5A
26 regulation of heart rate by cardiac conduction GO:0086091 9.56 KCNH2 KCNQ1 SCN4B SCN5A
27 potassium ion export across plasma membrane GO:0097623 9.54 KCNH2 KCNQ1
28 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.54 CAV3 GPD1L SCN5A
29 AV node cell action potential GO:0086016 9.52 SCN4B SCN5A
30 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.5 KCNH2 KCNJ8 KCNQ1
31 regulation of heart rate GO:0002027 9.46 CAV3 GPD1L SCN5A SNTA1
32 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.43 CAV3 KCNH2 KCNQ1 SCN4B SCN5A SNTA1
33 ventricular cardiac muscle cell action potential GO:0086005 9.1 CAV3 GPD1L KCNH2 KCNQ1 SCN5A SNTA1
34 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:

# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.72 KCNH2 KCNJ8 KCNQ1 SCN4B SCN5A
2 scaffold protein binding GO:0097110 9.58 KCNH2 KCNQ1 SCN5A
3 inward rectifier potassium channel activity GO:0005242 9.46 KCNH2 KCNJ8
4 sodium channel regulator activity GO:0017080 9.46 CAV3 GPD1L SCN4B SNTA1
5 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.43 KCNH2 KCNQ1
6 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.43 KCNH2 KCNJ8 KCNQ1
7 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.37 SCN4B SCN5A
8 nitric-oxide synthase binding GO:0050998 9.26 CAV3 SCN5A SLC6A4 SNTA1
9 ion channel binding GO:0044325 9.1 CAV3 GPD1L KCNQ1 SCN4B SCN5A SNTA1

Sources for Sudden Infant Death Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
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