Canavan Disease
Clinical Features
Top most frequent phenotypes and symptoms related to Canavan Disease
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
- Nystagmus
- Muscular hypotonia
- Spasticity
- Cognitive impairment
- Flexion contracture
And another 40 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Based on the latest data available CANAVAN DISEASE have a estimated birth prevalence of 1 per 100k in Europe.— No data available about the known clinical features onset.
Alternative names
Canavan Disease Is also known as spongy degeneration of central nervous system, aminoacylase 2 deficiency, asp deficiency, aspartoacylase deficiency, aspa deficiency, acy2 deficiency, canavan-van bogaert-bertrand disease.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Canavan Disease Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
![]() By Baylor Miraca Genetics Laboratories (United States).
ASPA
Specificity
100 %
Genes
100 % |
![]() By Baylor Miraca Genetics Laboratories (United States).
CFTR, HEXA, ELP1, ASPA
Specificity
25 %
Genes
100 % |
![]() By Baylor Miraca Genetics Laboratories (United States).
SMPD1, FANCC, GBA, ELP1, ASPA
Specificity
20 %
Genes
100 % |
![]() By Baylor Miraca Genetics Laboratories (United States).
SMPD1, FANCC, GBA, ELP1, ASPA
Specificity
20 %
Genes
100 % |
![]() By Baylor Miraca Genetics Laboratories (United States).
RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...)
View the complete list with 139 more genes
Specificity
1 %
Genes
100 % |
![]() By Baylor Miraca Genetics Laboratories (United States).
RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, TGM1 , (...)
View the complete list with 129 more genes
Specificity
1 %
Genes
100 % |
![]() By Baylor Miraca Genetics Laboratories (United States).
BLM, SLC35A3, SMN1, SMPD1, CLRN1, MCOLN1, PCDH15, RTEL1, CFTR, SUMF1, DHDDS, ADAMTS2, COL4A3, CPT2, TMEM216, DHCR7, DLD, DMD, FAH, FANCC , (...)
View the complete list with 19 more genes
Specificity
3 %
Genes
100 % |
![]() By Baylor Miraca Genetics Laboratories (United States).
BLM, SMN1, SMPD1, MCOLN1, CFTR, FANCC, GBA, HBA1, HBA2, HBB, HEXA, ELP1, ASPA
Specificity
8 %
Genes
100 % |
You can get up to 83 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
ORPHANET OMIM Rare Disease Symptoms CheckerIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like RENAL CYSTS AND DIABETES SYNDROME; RCAD MANNOSE-BINDING LECTIN DEFICIENCY; MBLD MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q; LGMD2Q COMBINED MALONIC AND METHYLMALONIC ACIDURIA; CMAMMA ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY