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BHS
MCID: BRT055
MIFTS: 28

Breath-Holding Spells (BHS)

Categories: Respiratory diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Breath-Holding Spells

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MalaCards integrated aliases for Breath-Holding Spells:

Name: Breath-Holding Spells 57
Bhs 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
involuntary and nonvolitional phenomenon
onset 6 to 12 months
variable frequency (daily to monthly)
mean age at termination 3 to 4 years
distinctive and stereotyped sequence of events
provoked by crying or emotional upset


HPO:

31
breath-holding spells:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Anatomical: Respiratory diseases
See all MalaCards categories (disease lists)


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Summaries for Breath-Holding Spells

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OMIM® : 57 The diagnosis of severe breath-holding spells (BHS) in childhood is based on a distinctive and stereotyped sequence of clinical events beginning with a provocation resulting in crying or emotional upset that leads to a noiseless state of expiration accompanied by color change and ultimately loss of consciousness and postural tone (Lombroso and Lerman, 1967; DiMario, 1992). Two clinical types are recognized based on the child's coloration (cyanotic or pallid) during these events. Most children experience the cyanotic type, although some experience mixed types. BHS is an involuntary, nonvolitional, reflexic, nonepileptic paroxysmal phenomenon of childhood. The episodes occur during full expiration despite its misnomer. Autonomic dysregulation has been hypothesized as an underlying mechanism that results in loss of consciousness (Hunt, 1990; DiMario and Burleson, 1993; Dimario et al., 1998). (607578) (Updated 05-Mar-2021)

MalaCards based summary : Breath-Holding Spells, also known as bhs, is related to epilepsy and syncope. An important gene associated with Breath-Holding Spells is NPY (Neuropeptide Y), and among its related pathways/superpathways is Neuroscience. The drugs Omega 3 Fatty Acid and Valproic acid have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and heart, and related phenotypes are behavioral abnormality and pallor

Wikipedia : 74 Breath-holding spells (BHS) are the occurrence of episodic apnea in children, possibly associated with... more...

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Related Diseases for Breath-Holding Spells

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Diseases related to Breath-Holding Spells via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 48)
# Related Disease Score Top Affiliating Genes
1 epilepsy 29.4 S100B NPY
2 syncope 10.8
3 iron metabolism disease 10.7
4 deficiency anemia 10.7
5 iron deficiency anemia 10.6
6 autonomic dysfunction 10.5
7 cyanosis, transient neonatal 10.4
8 febrile seizures 10.4
9 seizure disorder 10.4
10 cardiac arrest 10.4
11 status epilepticus 10.4
12 long qt syndrome 10.4
13 cardiac conduction defect 10.3
14 transient erythroblastopenia of childhood 10.3
15 fainting 10.3
16 cardiac arrhythmia 10.1
17 suprabulbar paresis, congenital 10.1
18 supravalvular aortic stenosis 10.1
19 williams-beuren syndrome 10.1
20 neuropathy, hereditary sensory and autonomic, type iii 10.1
21 resting heart rate, variation in 10.1
22 anxiety 10.1
23 coronary stenosis 10.1
24 somatoform disorder 10.1
25 lung disease 10.1
26 anoxia 10.1
27 dysautonomia 10.1
28 posttransplant acute limbic encephalitis 10.1
29 hypertension, essential 9.9
30 coronary heart disease 1 9.9
31 major affective disorder 8 9.9
32 major affective disorder 9 9.9
33 inguinal hernia 9.9
34 osteonecrosis 9.9
35 mastitis 9.9
36 onchocerciasis 9.9
37 bipolar disorder 9.9
38 intracranial vasospasm 9.8 S100B NPY
39 subependymal giant cell astrocytoma 9.8 S100B NPY
40 ganglioneuroblastoma 9.8 S100B NPY
41 machado-joseph disease 9.8 S100B NPY
42 constipation 9.7 S100B NPY
43 migraine with or without aura 1 9.7 S100B NPY
44 ewing sarcoma 9.7 S100B NPY
45 peripheral nervous system disease 9.7 S100B NPY
46 major depressive disorder 9.7 S100B NPY
47 attention deficit-hyperactivity disorder 9.6 S100B NPY
48 myocardial infarction 9.6 S100B NPY

Graphical network of the top 20 diseases related to Breath-Holding Spells:



Diseases related to Breath-Holding Spells
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Symptoms & Phenotypes for Breath-Holding Spells

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Human phenotypes related to Breath-Holding Spells:

31
# Description HPO Frequency HPO Source Accession
1 behavioral abnormality 31 HP:0000708
2 pallor 31 HP:0000980
3 cyanosis 31 HP:0000961
4 loss of consciousness 31 HP:0007185
5 iron deficiency anemia 31 HP:0001891

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
loss of consciousness
loss of postural tone
hypoxic convulsions

Respiratory:
breathing stopped in expiration after a deep inspiration during crying or emotional upset

Neurologic Behavioral Psychiatric Manifestations:
involuntary and nonvolitional phenomenon

Hematology:
associated with iron deficiency anemia

Skin Nails Hair Skin:
cyanosis during episodes
pallor during episodes

Clinical features from OMIM®:

607578 (Updated 05-Mar-2021)

Sources

Drugs & Therapeutics for Breath-Holding Spells

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Drugs for Breath-Holding Spells (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Omega 3 Fatty Acid Phase 3
2
Valproic acid Approved, Investigational Phase 1 99-66-1 3121
3 Anticonvulsants Phase 1
4 Neurotransmitter Agents Phase 1
5 Psychotropic Drugs Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effect of Docosahexaenoic Acid on Breath Holding Spells in Children: A Randomized Controlled Trial Recruiting NCT03965988 Phase 3 DHA;Placebo
2 The Effectiveness of Valproic Acid in Treating Frequent Cyanotic Breath Holding Spells Completed NCT04482764 Phase 1 Valproic Acid

Search NIH Clinical Center for Breath-Holding Spells

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Genetic Tests for Breath-Holding Spells

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Anatomical Context for Breath-Holding Spells

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MalaCards organs/tissues related to Breath-Holding Spells:

40
Brain, Eye, Heart
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Publications for Breath-Holding Spells

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Articles related to Breath-Holding Spells:

(show top 50) (show all 214)
# Title Authors PMID Year
1
Prospective study of children with cyanotic and pallid breath-holding spells. 57 61
11158456 2001
2
Breath holding spells in 91 children and response to treatment with iron. 57 61
10451402 1999
3
Respiratory sinus arrhythmia in children with severe cyanotic and pallid breath-holding spells. 61 57
9733290 1998
4
Family pedigree analysis of children with severe breath-holding spells. 57 61
9108865 1997
5
Autonomic nervous system function in severe breath-holding spells. 61 57
8216538 1993
6
Breath-holding spells in childhood. 57 61
1736640 1992
7
Relationship between breath-holding spells and cardiorespiratory control: a new perspective. 57 61
2380823 1990
8
Breathholding spells (cyanotic and pallid infantile syncope). 57
4960778 1967
9
Non-epileptic paroxysmal events in paediatric patients: A single tertiary centre study in Egypt. 61
33607445 2021
10
Severe pallid breath-holding spells treated with low-dose theophylline. 61
32988679 2021
11
Loss of Consciousness in the Young Child. 61
33388850 2021
12
[Breath-holding spells in children]. 61
33280646 2020
13
Creatine Transporter Deficiency Presenting as Autism Spectrum Disorder. 61
33093139 2020
14
Evaluation of the effectiveness of valproic acid for treating cyanotic breath holding spells: A Pilot prospective study. 61
32969724 2020
15
Iron Supplementation for the Treatment of Breath-Holding Spells: A Systematic Review and Meta-Analysis. 61
32281397 2020
16
SCN8A heterozygous variants are associated with anoxic-epileptic seizures. 61
32040247 2020
17
The Clinical Journey of Patients with Riboflavin Transporter Deficiency Type 2. 61
31868069 2020
18
Evaluation of the Efficacy of LevetiracetamPlus Iron in Comparison With Iron Alone in Controlling and Reducing the Frequency of Breath-Holding Spells in Children Aged 6 Months to 5 Years. 61
33193783 2020
19
Effectiveness Oral Theophylline, Piracetam, and Iron Treatments in Children With Simple Breath-Holding Spells. 61
31502508 2020
20
Spectrum of Nonepileptic Paroxysmal Events in Children from Southern India. 61
31831979 2019
21
Ventricular repolarization changes in children with breath holding spells. 61
31152993 2019
22
Iron supplementation should be given in breath-holding spells regardless of anemia 61
30761881 2019
23
"Breath holding spells" in a child with SCN8A-related epilepsy: Expanding the clinical spectrum. 61
30685519 2019
24
Breath-Holding Spells in Pediatrics: A Narrative Review of the Current Evidence. 61
30421679 2019
25
Effectiveness of Iron Therapy on Breath Holding Spells in the Children. 61
31645875 2019
26
Cardiac pacing in cardioinhibitory syncope in children. 61
30298977 2018
27
Efficacy of treatment with belladonna in children with severe pallid breath-holding spells. 61
29747708 2018
28
[Syncope in children and adolescents]. 61
29761336 2018
29
Iron deficiency and cyanotic breath-holding spells: The effectiveness of iron therapy. 61
30351985 2018
30
Paediatric breath-holding spells are associated with autonomic dysfunction and iron deficiency may play a role. 61
29210110 2018
31
Atypical Cyanotic Breath-Holding Spells in an Infant With 16p11.2 Microdeletion Syndrome. 61
28664753 2018
32
Performance of a tracheostomy removal protocol for pediatric patients in rehabilitation after acquired brain injury: Factors associated with timing and possibility of decannulation. 61
28950420 2017
33
Cardiac arrest in a toddler treated with propranolol for infantile Hemangioma: a case report. 61
29149854 2017
34
Effect of iron supplementation in children with breath holding spells. 61
28568906 2017
35
Development and validation of AIIMS modified INCLEN diagnostic instrument for epilepsy in children aged 1 month-18 years. 61
28157600 2017
36
Brain metabolite values in children with breath-holding spells. 61
28721046 2017
37
The Utilization of an Insertable Cardiac Monitor in a Child With Pallid Breath-Holding Spells. 61
27751664 2016
38
Breath-holding spells occur disproportionately more often in children with transient erythroblastopenia. 61
27060698 2016
39
Efficacy of a Brief Psychoeducational Intervention for Mothers of Children with Breath-Holding Spells: A Randomized Controlled Pilot Trial. 61
27128727 2016
40
Parental attitude, depression, anxiety in mothers, family functioning and breath-holding spells: A case control study. 61
27089451 2016
41
Clinico-laboratory profile of breath-holding spells in children in Sohag University Hospital, Upper Egypt. 61
27279996 2016
42
Congenital Central Hypoventilation Syndrome: Neurocognition Already Reduced in Preschool-Aged Children. 61
26378991 2016
43
[The use of Pantogam syrup in treating small children's breath holding spells]. 61
27635617 2016
44
Evaluation of QT Dispersion in Children with Breath Holding Spells. 61
27057184 2016
45
[The function of autonomic nervous system during paroxysmal events in children and adolescents, and available diagnostic methods]. 61
27349049 2016
46
[Apparent life-threatening events and sudden unexpected death in infancy: Two different entities]. 61
26228810 2015
47
Breath holding spells - a tale of 50 years. 61
26388629 2015
48
Novel Findings in Breath-Holding Spells: A Cross-Sectional Study. 61
26181556 2015
49
Melatonin Can Be Used to Treat Childhood Breath-Holding Spells. 61
25117414 2015
50
Breath Holding Spells in Children with Long QT Syndrome. 61
25916402 2015
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Variations for Breath-Holding Spells

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Expression for Breath-Holding Spells

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Search GEO for disease gene expression data for Breath-Holding Spells.
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Pathways for Breath-Holding Spells

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Pathways related to Breath-Holding Spells according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Neuroscience 4
11.16 S100B NPY
Sources

GO Terms for Breath-Holding Spells

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Sources for Breath-Holding Spells

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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