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.

Click here to know more about Mendelian.

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
Canavan Disease Ashkenazic Mutation Panel.

By Baylor Miraca Genetics Laboratories (United States).

ASPA
Specificity
100 %
Genes
100 %
Ashkenazic Genetic Disease Panel.

By Baylor Miraca Genetics Laboratories (United States).

CFTR, HEXA, ELP1, ASPA
Specificity
25 %
Genes
100 %
Ashkenazic Genetic Disease Screen (with Cystic Fibrosis).

By Baylor Miraca Genetics Laboratories (United States).

SMPD1, FANCC, GBA, ELP1, ASPA
Specificity
20 %
Genes
100 %
Ashkenazic Genetic Disease Screen (without Cystic Fibrosis).

By Baylor Miraca Genetics Laboratories (United States).

SMPD1, FANCC, GBA, ELP1, ASPA
Specificity
20 %
Genes
100 %
GeneAware Complete Panel Version 2 (Female).

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 %
GeneAware Complete Panel Version 2 (Male).

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 %
GeneAware Ashkenazi Jewish Panel Version 2 (Female).

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 %
GeneAware ACMG/ACOG Panel Version 2 (Male).

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 more

Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Symptoms Checker

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