Severe Canavan disease

General Information (adopted from Orphanet):

Synonyms, Signs: Neonatal Canavan disease
Infantile Canavan disease
Number of Symptoms 16
OrphanetNr: 314911
OMIM Id:
ICD-10: E75.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Canavan disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000256) Macrocephaly Very frequent [Orphanet] 298 / 7739
2
 (HPO:0000572) Visual loss Frequent [Orphanet] 272 / 7739
3
 (HPO:0000649) Abnormality of visual evoked potentials Very frequent [Orphanet] 34 / 7739
4
 (HPO:0000365) Hearing impairment Frequent [Orphanet] 539 / 7739
5
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
6
 (HPO:0004372) Reduced consciousness/confusion Very frequent [Orphanet] 73 / 7739
7
 (HPO:0001276) Hypertonia Very frequent [Orphanet] 317 / 7739
8
 (HPO:0011442) Abnormality of central motor function Very frequent [Orphanet] 76 / 7739
9
 (HPO:0002353) EEG abnormality Very frequent [Orphanet] 188 / 7739
10
 (HPO:0002015) Dysphagia Very frequent [Orphanet] 301 / 7739
11
 (HPO:0002360) Sleep disturbance Very frequent [Orphanet] 113 / 7739
12
 (HPO:0002577) Abnormality of the stomach Frequent [Orphanet] 84 / 7739
13
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
14
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
15
 (HPO:0012795) Abnormality of the optic disc Very frequent [Orphanet] 187 / 7739
16
 (HPO:0001522) Death in infancy Frequent [Orphanet] 275 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: