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MCID: BRT055
MIFTS: 35
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Breath-Holding Spells
Categories:
Respiratory diseases
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MalaCards integrated aliases for Breath-Holding Spells:
Name: Breath-Holding Spells
58
Characteristics:OMIM:58
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:33Classifications: |
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OMIM
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58
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 band heterotopia and iron metabolism disease. 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 heart, thyroid and brain, and related phenotypes are behavioral abnormality and pallor Wikipedia : 77 Breath-holding spells (BHS) are the occurrence of episodic apnea in children, possibly associated with... more... |
Human phenotypes related to Breath-Holding Spells:33
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:607578 |
Drugs for Breath-Holding Spells (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 9)
Interventional clinical trials:
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MalaCards organs/tissues related to Breath-Holding Spells:42
Heart,
Thyroid,
Brain,
Testes
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Articles related to Breath-Holding Spells:(show top 50) (show all 152)
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Genes related to Breath-Holding Spells (0 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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Search
GEO
for disease gene expression data for Breath-Holding Spells.
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Biological processes related to Breath-Holding Spells according to GeneCards Suite gene sharing:
Molecular functions related to Breath-Holding Spells according to GeneCards Suite gene sharing:
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