CYCLIC VOMITING SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs: CYCLIC VOMITING SYNDROME-PLUS, INCLUDED
CVS-PLUS, INCLUDED
CVS CYCLIC VOMITING SYNDROME WITH NEUROMUSCULAR DISEASE, INCLUDED
Number of Symptoms 38
OrphanetNr:
OMIM Id: 500007
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Multifactorial
Mitochondrial inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000252) Microcephaly 832 / 7739
2
(HPO:0000486) Strabismus 576 / 7739
3
(HPO:0000365) Hearing impairment 539 / 7739
4
(HPO:0001250) Seizures 1245 / 7739
5
(HPO:0000717) Autism 108 / 7739
6
(HPO:0001251) Ataxia 413 / 7739
7
(HPO:0002076) Migraine 41 / 7739
8
(HPO:0001270) Motor delay 322 / 7739
9
(HPO:0100543) Cognitive impairment 230 / 7739
10
(HPO:0002066) Gait ataxia 327 / 7739
11
(HPO:0002311) Incoordination 84 / 7739
12
(HPO:0001327) Photomyoclonic seizures 125 / 7739
13
(HPO:0001254) Lethargy 104 / 7739
14
(HPO:0000729) Autistic behavior 27 / 7739
15
(HPO:0007018) Attention deficit hyperactivity disorder 56 / 7739
16
(HPO:0001249) Intellectual disability 1089 / 7739
17
(HPO:0002013) Vomiting 191 / 7739
18
(HPO:0002039) Anorexia 62 / 7739
19
(HPO:0002579) Gastrointestinal dysmotility 11 / 7739
20
(HPO:0002018) Nausea 44 / 7739
21
(HPO:0002027) Abdominal pain 184 / 7739
22
(HPO:0001510) Growth delay 295 / 7739
23
(HPO:0000980) Pallor 52 / 7739
24
(HPO:0001637) Abnormality of the myocardium 76 / 7739
25
(HPO:0001638) Cardiomyopathy 192 / 7739
26
(HPO:0003546) Exercise intolerance 62 / 7739
27
(HPO:0001324) Muscle weakness 859 / 7739
28
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
29
(HPO:0001252) Muscular hypotonia 990 / 7739
30
(HPO:0010547) Muscle flaccidity 466 / 7739
31
(OMIM) Rapid complete resolution of symptoms 1 / 7739
32
(OMIM) Rapid onset 1 / 7739
33
(HPO:0001427) Mitochondrial inheritance 12 / 7739
34
(OMIM) Interictal periods of normal health 1 / 7739
35
(OMIM) Peak frequency of vomiting every 10 to 15 minutes 1 / 7739
36
(OMIM) Occurs most often during the night or early morning 1 / 7739
37
(HPO:0001426) Multifactorial inheritance 37 / 7739
38
(OMIM) Vomiting, episodic 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Cyclic vomiting syndrome has long been recognized (Lombard, 1861; Gee, 1882). It is characterized by recurrent, explosive bouts of vomiting punctuated by periods of normal health. Affected individuals have stereotypical episodes with rapid onset, most often during the ...
Molecular genetics OMIM In 4 members of an Italian family with cyclic vomiting syndrome, Salpietro et al. (2003) identified a mutation in the MTTL1 gene (590050.0001). The youngest affected member, a 5-year-old boy, had 70% mutant mtDNA in peripheral blood. The ...