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BHS
MCID: BRT055
MIFTS: 30

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 56
Bhs 56

Characteristics:

OMIM:

56
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 : 56 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)

MalaCards based summary : Breath-Holding Spells, also known as bhs, is related to epilepsy and band heterotopia. An important gene associated with Breath-Holding Spells is NPY (Neuropeptide Y), and among its related pathways/superpathways is Neuroscience. The drugs Sodium citrate and Caffeine 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 top 50) (show all 86)
# Related Disease Score Top Affiliating Genes
1 epilepsy 29.4 S100B NPY
2 band heterotopia 11.5
3 syncope 10.8
4 iron metabolism disease 10.7
5 deficiency anemia 10.7
6 iron deficiency anemia 10.6
7 seizure disorder 10.6
8 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 10.5
9 visual epilepsy 10.5
10 autonomic dysfunction 10.5
11 cyanosis, transient neonatal 10.5
12 phenylketonuria 10.4
13 status epilepticus 10.4
14 long qt syndrome 10.4
15 febrile seizures 10.4
16 acute leukemia 10.4
17 cardiac conduction defect 10.3
18 transient erythroblastopenia of childhood 10.3
19 cardiac arrest 10.3
20 fainting 10.3
21 cardiac arrhythmia 10.2
22 suprabulbar paresis, congenital 10.2
23 supravalvular aortic stenosis 10.2
24 williams-beuren syndrome 10.2
25 neuropathy, hereditary sensory and autonomic, type iii 10.2
26 resting heart rate, variation in 10.2
27 anxiety 10.2
28 sleep apnea 10.2
29 coronary stenosis 10.2
30 somatoform disorder 10.2
31 ganglioglioma 10.2
32 lung disease 10.2
33 anoxia 10.2
34 dysautonomia 10.2
35 posttransplant acute limbic encephalitis 10.2
36 schistosoma mansoni infection, susceptibility/ 10.1
37 lymphoma 10.1
38 neutropenia 10.1
39 schistosomiasis 10.1
40 bladder cancer 10.0
41 renal cell carcinoma, nonpapillary 10.0
42 hypertension, essential 10.0
43 optic atrophy 1 10.0
44 ovarian cancer 10.0
45 ventricular fibrillation, paroxysmal familial, 1 10.0
46 body mass index quantitative trait locus 1 10.0
47 coronary heart disease 1 10.0
48 kala-azar 1 10.0
49 acute promyelocytic leukemia 10.0
50 hemorrhagic cystitis 10.0

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:

56
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
Sources

Drugs & Therapeutics for Breath-Holding Spells

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

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sodium citrate Approved, Investigational Phase 3 68-04-2
2
Caffeine Approved Phase 3 58-08-2 2519
3
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
4 Citrate Phase 3
5 Phosphodiesterase Inhibitors Phase 3
6 Central Nervous System Stimulants Phase 3
7 Neurotransmitter Agents Phase 3
8 Caffeine citrate Phase 3
9 Omega 3 Fatty Acid Phase 3
10
Metronidazole Approved 443-48-1 4173

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Efficacy and Safety of Methylxanthines in Very Low Birthweight Infants Completed NCT00182312 Phase 3 Caffeine citrate injection
2 Effect of Docosahexaenoic Acid on Breath Holding Spells in Children: A Randomized Controlled Trial Recruiting NCT03965988 Phase 3 DHA;Placebo
3 Neurocognitive Outcome as a Metric for Evaluating Therapeutic Intervention and Treatment Mechanisms in Congenital Central Hypoventilation Syndrome (CCHS): A Multi-Site Study Using The NIH Toolbox Recruiting NCT03568669
4 Pattern of Pediatric Seizures at Al-Arish Central Hospital - North Sinai Not yet recruiting NCT03374384

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 206)
# Title Authors PMID Year
1
Prospective study of children with cyanotic and pallid breath-holding spells. 61 56
11158456 2001
2
Breath holding spells in 91 children and response to treatment with iron. 56 61
10451402 1999
3
Respiratory sinus arrhythmia in children with severe cyanotic and pallid breath-holding spells. 61 56
9733290 1998
4
Family pedigree analysis of children with severe breath-holding spells. 56 61
9108865 1997
5
Autonomic nervous system function in severe breath-holding spells. 61 56
8216538 1993
6
Breath-holding spells in childhood. 61 56
1736640 1992
7
Relationship between breath-holding spells and cardiorespiratory control: a new perspective. 56 61
2380823 1990
8
Breathholding spells (cyanotic and pallid infantile syncope). 56
4960778 1967
9
Iron Supplementation for the Treatment of Breath-Holding Spells: A Systematic Review and Meta-Analysis. 61
32281397 2020
10
SCN8A heterozygous variants are associated with anoxic-epileptic seizures. 61
32040247 2020
11
The Clinical Journey of Patients with Riboflavin Transporter Deficiency Type 2. 61
31868069 2020
12
Effectiveness Oral Theophylline, Piracetam, and Iron Treatments in Children With Simple Breath-Holding Spells. 61
31502508 2020
13
Spectrum of Nonepileptic Paroxysmal Events in Children from Southern India. 61
31831979 2019
14
Ventricular repolarization changes in children with breath holding spells. 61
31152993 2019
15
"Breath holding spells" in a child with SCN8A-related epilepsy: Expanding the clinical spectrum. 61
30685519 2019
16
Iron supplementation should be given in breath-holding spells regardless of anemia 61
30761881 2019
17
Breath-Holding Spells in Pediatrics: A Narrative Review of the Current Evidence. 61
30421679 2019
18
Effectiveness of Iron Therapy on Breath Holding Spells in the Children. 61
31645875 2019
19
Cardiac pacing in cardioinhibitory syncope in children. 61
30298977 2018
20
Efficacy of treatment with belladonna in children with severe pallid breath-holding spells. 61
29747708 2018
21
[Syncope in children and adolescents]. 61
29761336 2018
22
Paediatric breath-holding spells are associated with autonomic dysfunction and iron deficiency may play a role. 61
29210110 2018
23
Iron deficiency and cyanotic breath-holding spells: The effectiveness of iron therapy. 61
30351985 2018
24
Atypical Cyanotic Breath-Holding Spells in an Infant With 16p11.2 Microdeletion Syndrome. 61
28664753 2018
25
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
26
Cardiac arrest in a toddler treated with propranolol for infantile Hemangioma: a case report. 61
29149854 2017
27
Effect of iron supplementation in children with breath holding spells. 61
28568906 2017
28
Development and validation of AIIMS modified INCLEN diagnostic instrument for epilepsy in children aged 1 month-18 years. 61
28157600 2017
29
Brain metabolite values in children with breath-holding spells. 61
28721046 2017
30
The Utilization of an Insertable Cardiac Monitor in a Child With Pallid Breath-Holding Spells. 61
27751664 2016
31
Breath-holding spells occur disproportionately more often in children with transient erythroblastopenia. 61
27060698 2016
32
Efficacy of a Brief Psychoeducational Intervention for Mothers of Children with Breath-Holding Spells: A Randomized Controlled Pilot Trial. 61
27128727 2016
33
Parental attitude, depression, anxiety in mothers, family functioning and breath-holding spells: A case control study. 61
27089451 2016
34
Clinico-laboratory profile of breath-holding spells in children in Sohag University Hospital, Upper Egypt. 61
27279996 2016
35
Congenital Central Hypoventilation Syndrome: Neurocognition Already Reduced in Preschool-Aged Children. 61
26378991 2016
36
[The function of autonomic nervous system during paroxysmal events in children and adolescents, and available diagnostic methods]. 61
27349049 2016
37
[The use of Pantogam syrup in treating small children's breath holding spells]. 61
27635617 2016
38
Evaluation of QT Dispersion in Children with Breath Holding Spells. 61
27057184 2016
39
[Apparent life-threatening events and sudden unexpected death in infancy: Two different entities]. 61
26228810 2015
40
Breath holding spells - a tale of 50 years. 61
26388629 2015
41
Novel Findings in Breath-Holding Spells: A Cross-Sectional Study. 61
26181556 2015
42
Melatonin Can Be Used to Treat Childhood Breath-Holding Spells. 61
25117414 2015
43
Breath Holding Spells in Children with Long QT Syndrome. 61
25916402 2015
44
THE NEUROLOGICAL FACE OF CELIAC DISEASE. 61
26486280 2015
45
Extracorporeal cardiopulmonary resuscitation for breath-holding spells followed by cardiac arrest due to left main coronary artery stenosis. 61
26012561 2015
46
Treatment of cyanotic breath-holding spells with oral theophylline in a 10-year-old boy. 61
25008909 2015
47
Assessment of both serum S-100B protein and neuropeptide-Y levels in childhood breath-holding spells. 61
26021463 2015
48
Case report of successful treatment of pallid breath-holding spells with glycopyrrolate. 61
25869368 2015
49
Improved quality of life after treatment of prolonged asystole during breath holding spells with a cardiac pacemaker. 61
26085761 2015
50
Assessment of heart rate variability in breath holding children by 24 hour Holter monitoring. 61
24351939 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
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GO Terms for Breath-Holding Spells

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

# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 8.62 S100B NPY
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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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
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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