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Cyclical vomiting syndrome(CVS)

MedGen UID:
57509
Concept ID:
C0152164
Disease or Syndrome
Synonyms: CVS; Cyclic vomiting syndrome; Familial cyclic vomiting syndrome (subtype)
SNOMED CT: Cyclical vomiting syndrome (18773000); Periodic vomiting (18773000); Cyclical vomiting (18773000); Periodic vomiting syndrome (18773000)
 
Monarch Initiative: MONDO:0010778
OMIM®: 500007

Definition

A condition characterized by recurrent, self-limiting episodes of vomiting associated with intense nausea, pallor, and lethargy. It is commonly a migraine precursor. [from NCI]

Clinical features

From HPO
Abdominal pain
MedGen UID:
7803
Concept ID:
C0000737
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.
Exercise intolerance
MedGen UID:
603270
Concept ID:
C0424551
Finding
A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender.
Cardiomyopathy
MedGen UID:
209232
Concept ID:
C0878544
Disease or Syndrome
A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.
Growth delay
MedGen UID:
99124
Concept ID:
C0456070
Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
Nausea
MedGen UID:
10196
Concept ID:
C0027497
Sign or Symptom
A sensation of unease in the stomach together with an urge to vomit.
Vomiting
MedGen UID:
12124
Concept ID:
C0042963
Sign or Symptom
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
Gastrointestinal dysmotility
MedGen UID:
324638
Concept ID:
C1836923
Finding
Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes.
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Anorexia
MedGen UID:
315
Concept ID:
C0003123
Disease or Syndrome
Anorexia, or the loss of appetite for food, is a medical condition.
Autism
MedGen UID:
13966
Concept ID:
C0004352
Mental or Behavioral Dysfunction
Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006). Levy et al. (2009) provided a general review of autism and autism spectrum disorder, including epidemiology, characteristics of the disorder, diagnosis, neurobiologic hypotheses for the etiology, genetics, and treatment options. Genetic Heterogeneity of Autism Autism is considered to be a complex multifactorial disorder involving many genes. Accordingly, several loci have been identified, some or all of which may contribute to the phenotype. Included in this entry is AUTS1, which has been mapped to chromosome 7q22. Other susceptibility loci include AUTS3 (608049), which maps to chromosome 13q14; AUTS4 (608636), which maps to chromosome 15q11; AUTS6 (609378), which maps to chromosome 17q11; AUTS7 (610676), which maps to chromosome 17q21; AUTS8 (607373), which maps to chromosome 3q25-q27; AUTS9 (611015), which maps to chromosome 7q31; AUTS10 (611016), which maps to chromosome 7q36; AUTS11 (610836), which maps to chromosome 1q41; AUTS12 (610838), which maps to chromosome 21p13-q11; AUTS13 (610908), which maps to chromosome 12q14; AUTS14A (611913), which has been found in patients with a deletion of a region of 16p11.2; AUTS14B (614671), which has been found in patients with a duplication of a region of 16p11.2; AUTS15 (612100), associated with mutation in the CNTNAP2 gene (604569) on chromosome 7q35-q36; AUTS16 (613410), associated with mutation in the SLC9A9 gene (608396) on chromosome 3q24; AUTS17 (613436), associated with mutation in the SHANK2 gene (603290) on chromosome 11q13; AUTS18 (615032), associated with mutation in the CHD8 gene (610528) on chromosome 14q11; AUTS19 (615091), associated with mutation in the EIF4E gene (133440) on chromosome 4q23; and AUTS20 (618830), associated with mutation in the NLGN1 gene (600568) on chromosome 3q26. (NOTE: the symbol 'AUTS2' has been used to refer to a gene on chromosome 7q11 (KIAA0442; 607270) and therefore is not used as a part of this autism locus series.) There are several X-linked forms of autism susceptibility: AUTSX1 (300425), associated with mutations in the NLGN3 gene (300336); AUTSX2 (300495), associated with mutations in NLGN4 (300427); AUTSX3 (300496), associated with mutations in MECP2 (300005); AUTSX4 (300830), associated with variation in the region on chromosome Xp22.11 containing the PTCHD1 gene (300828); AUTSX5 (300847), associated with mutations in the RPL10 gene (312173); and AUTSX6 (300872), associated with mutation in the TMLHE gene (300777). A locus on chromosome 2q (606053) associated with a phenotype including intellectual disability and speech deficits was formerly designated AUTS5. Folstein and Rosen-Sheidley (2001) reviewed the genetics of autism.
Cerebellar ataxia
MedGen UID:
849
Concept ID:
C0007758
Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Lethargy
MedGen UID:
7310
Concept ID:
C0023380
Sign or Symptom
A state of fatigue, either physical or mental slowness and sluggishness, with difficulties in initiating or performing simple tasks. Distinguished from apathy which implies indifference and a lack of desire or interest in the task. A person with lethargy may have the desire, but not the energy to engage in personal or socially relevant tasks.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Migraine
MedGen UID:
57451
Concept ID:
C0149931
Disease or Syndrome
Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.
Cognitive impairment
MedGen UID:
90932
Concept ID:
C0338656
Mental or Behavioral Dysfunction
Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.
Attention deficit hyperactivity disorder
MedGen UID:
220387
Concept ID:
C1263846
Mental or Behavioral Dysfunction
Attention-deficit/hyperactivity disorder (ADHD) is a behavioral disorder that typically begins in childhood and is characterized by a short attention span (inattention), an inability to be calm and stay still (hyperactivity), and poor impulse control (impulsivity). Some people with ADHD have problems with only inattention or with hyperactivity and impulsivity, but most have problems related to all three features.\n\nIn people with ADHD, the characteristic behaviors are frequent and severe enough to interfere with the activities of daily living such as school, work, and relationships with others. Because of an inability to stay focused on tasks, people with inattention may be easily distracted, forgetful, avoid tasks that require sustained attention, have difficulty organizing tasks, or frequently lose items.\n\nIn most affected individuals, ADHD continues throughout life, but in about one-third of individuals, signs and symptoms of ADHD go away by adulthood.\n\nHyperactivity is usually shown by frequent movement. Individuals with this feature often fidget or tap their foot when seated, leave their seat when it is inappropriate to do so (such as in the classroom), or talk a lot and interrupt others.\n\nImpulsivity can result in hasty actions without thought for the consequences. Individuals with poor impulse control may have difficulty waiting for their turn, deferring to others, or considering their actions before acting.\n\nMore than two-thirds of all individuals with ADHD have additional conditions, including insomnia, mood or anxiety disorders, learning disorders, or substance use disorders. Affected individuals may also have autism spectrum disorder, which is characterized by impaired communication and social interaction, or Tourette syndrome, which is a disorder characterized by repetitive and involuntary movements or noises called tics.
Motor delay
MedGen UID:
381392
Concept ID:
C1854301
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Muscle weakness
MedGen UID:
57735
Concept ID:
C0151786
Finding
Reduced strength of muscles.
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Pallor
MedGen UID:
69133
Concept ID:
C0241137
Finding
Abnormally pale skin.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCyclical vomiting syndrome

Professional guidelines

PubMed

Bhatia V, Deswal S, Seth S, Kapoor A, Sibal A, Gopalan S
Indian J Gastroenterol 2016 Jul;35(4):294-8. Epub 2016 Aug 24 doi: 10.1007/s12664-016-0680-x. PMID: 27554498
Devanarayana NM, Adhikari C, Pannala W, Rajindrajith S
J Trop Pediatr 2011 Feb;57(1):34-9. Epub 2010 Jun 4 doi: 10.1093/tropej/fmq039. PMID: 20525779
Pritchard MJ, O'Neill S
Nurs Stand 2010 Feb 10-16;24(23):35-41. doi: 10.7748/ns2010.02.24.23.35.c7550. PMID: 20222244

Recent clinical studies

Etiology

Kilani Y, Aljabiri Y, Arshad I, Alsakarneh S, Aldiabat M, Castro Puello P, Vahanyan A, Vikash F, Kumar V, Numan L, Thor S
Dig Liver Dis 2024 Feb;56(2):272-280. Epub 2023 Oct 23 doi: 10.1016/j.dld.2023.10.002. PMID: 37880016
Drumm BR, Bourke B, Drummond J, McNicholas F, Quinn S, Broderick A, Taaffe S, Twomey J, Rowland M
Neurogastroenterol Motil 2012 Oct;24(10):922-7. Epub 2012 Jul 4 doi: 10.1111/j.1365-2982.2012.01960.x. PMID: 22762244
Fitzpatrick E, Bourke B, Drumm B, Rowland M
Arch Dis Child 2007 Nov;92(11):1001-4. Epub 2007 Jun 22 doi: 10.1136/adc.2007.116608. PMID: 17588965Free PMC Article
Kothare SV
Eur J Paediatr Neurol 2005;9(1):23-6. Epub 2004 Dec 25 doi: 10.1016/j.ejpn.2004.11.002. PMID: 15701563
Dignan F, Symon DN, AbuArafeh I, Russell G
Arch Dis Child 2001 Jan;84(1):55-57. doi: 10.1136/adc.84.1.55. PMID: 11124785Free PMC Article

Diagnosis

Kilani Y, Aljabiri Y, Arshad I, Alsakarneh S, Aldiabat M, Castro Puello P, Vahanyan A, Vikash F, Kumar V, Numan L, Thor S
Dig Liver Dis 2024 Feb;56(2):272-280. Epub 2023 Oct 23 doi: 10.1016/j.dld.2023.10.002. PMID: 37880016
Cheema S, Matharu M
Handb Clin Neurol 2023;198:209-219. doi: 10.1016/B978-0-12-823356-6.00006-8. PMID: 38043963
Abu-Arafeh I, Gelfand AA
Nat Rev Neurol 2021 Jul;17(7):449-458. Epub 2021 May 26 doi: 10.1038/s41582-021-00497-6. PMID: 34040231
Pritchard MJ, O'Neill S
Nurs Stand 2010 Feb 10-16;24(23):35-41. doi: 10.7748/ns2010.02.24.23.35.c7550. PMID: 20222244
Forbes D
J Paediatr Child Health 1995 Apr;31(2):67-9. doi: 10.1111/j.1440-1754.1995.tb00748.x. PMID: 7794626

Therapy

Khalil C, Almario CV, Dupuy T, Arnold C, Chen YJ, Spiegel BMR
Neurogastroenterol Motil 2024 Feb;36(2):e14712. Epub 2024 Jan 8 doi: 10.1111/nmo.14712. PMID: 38191754
Perisetti A, Goyal H
Eur J Gastroenterol Hepatol 2022 Jan 1;34(1):1-8. doi: 10.1097/MEG.0000000000001992. PMID: 33208685
Schreck B, Wagneur N, Caillet P, Gérardin M, Cholet J, Spadari M, Authier N, Tournebize J, Gaillard M, Serre A, Carton L, Pain S, Jolliet P, Victorri-Vigneau C
Drug Alcohol Depend 2018 Jan 1;182:27-32. Epub 2017 Nov 7 doi: 10.1016/j.drugalcdep.2017.09.038. PMID: 29132050
Morris R, Fisher M
Int J Adolesc Med Health 2014;26(1):153-6. doi: 10.1515/ijamh-2012-0113. PMID: 23370905
Kothare SV
Eur J Paediatr Neurol 2005;9(1):23-6. Epub 2004 Dec 25 doi: 10.1016/j.ejpn.2004.11.002. PMID: 15701563

Prognosis

Kilani Y, Aljabiri Y, Arshad I, Alsakarneh S, Aldiabat M, Castro Puello P, Vahanyan A, Vikash F, Kumar V, Numan L, Thor S
Dig Liver Dis 2024 Feb;56(2):272-280. Epub 2023 Oct 23 doi: 10.1016/j.dld.2023.10.002. PMID: 37880016
Cheema S, Matharu M
Handb Clin Neurol 2023;198:209-219. doi: 10.1016/B978-0-12-823356-6.00006-8. PMID: 38043963
Levinthal DJ, Bielefeldt K
Exp Brain Res 2014 Aug;232(8):2541-7. Epub 2014 Apr 16 doi: 10.1007/s00221-014-3939-4. PMID: 24736863
Fitzpatrick E, Bourke B, Drumm B, Rowland M
Arch Dis Child 2007 Nov;92(11):1001-4. Epub 2007 Jun 22 doi: 10.1136/adc.2007.116608. PMID: 17588965Free PMC Article
Dignan F, Symon DN, AbuArafeh I, Russell G
Arch Dis Child 2001 Jan;84(1):55-57. doi: 10.1136/adc.84.1.55. PMID: 11124785Free PMC Article

Clinical prediction guides

Kilani Y, Aljabiri Y, Arshad I, Alsakarneh S, Aldiabat M, Castro Puello P, Vahanyan A, Vikash F, Kumar V, Numan L, Thor S
Dig Liver Dis 2024 Feb;56(2):272-280. Epub 2023 Oct 23 doi: 10.1016/j.dld.2023.10.002. PMID: 37880016
Levinthal DJ, Bielefeldt K
Exp Brain Res 2014 Aug;232(8):2541-7. Epub 2014 Apr 16 doi: 10.1007/s00221-014-3939-4. PMID: 24736863
Drumm BR, Bourke B, Drummond J, McNicholas F, Quinn S, Broderick A, Taaffe S, Twomey J, Rowland M
Neurogastroenterol Motil 2012 Oct;24(10):922-7. Epub 2012 Jul 4 doi: 10.1111/j.1365-2982.2012.01960.x. PMID: 22762244
McRonald FE, Fleisher DR
BMC Pediatr 2005 Mar 24;5(1):3. doi: 10.1186/1471-2431-5-3. PMID: 15790392Free PMC Article

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