CAND
MCID: CNV004
MIFTS: 54

Canavan Disease (CAND) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases

Aliases & Classifications for Canavan Disease

Aliases & Descriptions for Canavan Disease:

Name: Canavan Disease 54 12 71 23 50 24 25 51 56 66 13 52 42 14 69
Aspartoacylase Deficiency 23 50 24 25 56 66
Aminoacylase 2 Deficiency 50 25 56 66 69
Aspa Deficiency 23 50 24 25 66
Acy2 Deficiency 50 25 56 66
Canavan-Van Bogaert-Bertrand Disease 12 50 66
Spongy Degeneration of the Central Nervous System 50 29
Spongy Degeneration of Central Nervous System 12 66
Spongy Degeneration of the Brain 56
Von Bogaert-Bertrand Disease 50
Canavan's Disease 25
Asp Deficiency 50
Aspartoacylase 13
Cand 66

Characteristics:

Orphanet epidemiological data:

56
canavan disease
Inheritance: Autosomal recessive; Prevalence: 1-9/100000,1-9/100000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal; Age of death: adolescent,late childhood;

HPO:

32
canavan disease:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 271900
Disease Ontology 12 DOID:3613
MeSH 42 D017825
NCIt 47 C84611
SNOMED-CT 64 80544005
Orphanet 56 ORPHA141
MESH via Orphanet 43 D017825
UMLS via Orphanet 70 C0206307
ICD10 via Orphanet 34 E75.2
UMLS 69 C0206307

Summaries for Canavan Disease

NINDS : 51 Canavan disease is a gene-linked neurological disorder in which the brain degenerates into spongy tissue riddled with microscopic fluid-filled spaces. Canavan disease has been classified as one of a group of genetic disorders known as the leukodystrophies. Recent research has indicated that the cells in the brain responsible for making myelin sheaths, known as oligodendrocytes, cannot properly complete this critical developmental task.  Myelin sheaths are the fatty covering that act as insulators around nerve fibers in the brain, as well as providing nutritional support for nerve cells.  In Canavan disease, many oligodendrocytes do not mature  and instead die, leaving nerve cell projections known as axons vulnerable and unable to properly function.  Canavan disease is caused by mutation in the gene for an enzyme called aspartoacylase, which acts to break down the concentrated brain chemical known as N-acetyl-aspartate.

MalaCards based summary : Canavan Disease, also known as aspartoacylase deficiency, is related to severe canavan disease and mild canavan disease, and has symptoms including seizures, reduced consciousness/confusion and macrocephaly. An important gene associated with Canavan Disease is ASPA (Aspartoacylase), and among its related pathways/superpathways are Metabolism and Trafficking of AMPA receptors. The drugs Glycerol and 4-phenylbutyric acid have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and skin, and related phenotypes are behavior/neurological and nervous system

NIH Rare Diseases : 50 canavan disease is an inherited disorder that causes progressive damage to nerve cells in the brain. this disease is one of a group of genetic disorders called leukodystrophies. leukodystrophies disrupt the growth or maintenance of the myelin sheath, which is the fatty covering that insulates nerve fibers. canavan disease is caused by mutations in the aspa gene and is inherited in an autosomal recessive pattern. while it occurs in people of all ethnic backgrounds, it is most common in people of ashkenazi (eastern and central european) jewish heritage, and among saudi arabians.   last updated: 5/14/2015

UniProtKB/Swiss-Prot : 66 Canavan disease: A rare neurodegenerative condition of infancy or childhood characterized by white matter vacuolization and demyelination that gives rise to a spongy appearance. The clinical features are onset in early infancy, atonia of neck muscles, hypotonia, hyperextension of legs and flexion of arms, blindness, severe mental defect, megalocephaly, and death by 18 months on the average.

Genetics Home Reference : 25 Canavan disease is a rare inherited disorder that damages the ability of nerve cells (neurons) in the brain to send and receive messages. This disease is one of a group of genetic disorders called leukodystrophies. Leukodystrophies disrupt the growth or maintenance of the myelin sheath, which is the covering that protects nerves and promotes the efficient transmission of nerve impulses.

Wikipedia : 71 Canavan disease, also called Canavan–van Bogaert–Bertrand disease, is an autosomal recessive... more...

Description from OMIM: 271900
GeneReviews: NBK1234

Related Diseases for Canavan Disease

Diseases in the Canavan Disease family:

Severe Canavan Disease

Diseases related to Canavan Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
id Related Disease Score Top Affiliating Genes
1 severe canavan disease 12.0
2 mild canavan disease 12.0
3 leukodystrophy 11.3
4 tremor 10.0
5 candidiasis 9.9
6 atypical teratoid rhabdoid tumor 9.7
7 cerebritis 9.7
8 neuronitis 9.7
9 hypotonia 9.7
10 megalencephaly 9.7
11 succinic semialdehyde dehydrogenase deficiency 9.7
12 cholelithiasis 9.7
13 microcephaly 9.7
14 nonarteritic anterior ischemic optic neuropathy 8.6 AKAP5 ALDH5A1 ASPA BRCA1 FOLH1 GLUD1

Graphical network of the top 20 diseases related to Canavan Disease:



Diseases related to Canavan Disease

Symptoms & Phenotypes for Canavan Disease

Symptoms by clinical synopsis from OMIM:

271900

Clinical features from OMIM:

271900

Human phenotypes related to Canavan Disease:

56 32 (show all 25)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Occasional (29-5%) HP:0001250
2 reduced consciousness/confusion 56 32 Very frequent (99-80%) HP:0004372
3 macrocephaly 56 32 Frequent (79-30%) HP:0000256
4 muscular hypotonia 56 32 Frequent (79-30%) HP:0001252
5 eeg abnormality 56 32 Very frequent (99-80%) HP:0002353
6 developmental regression 56 32 Occasional (29-5%) HP:0002376
7 hearing impairment 56 32 Frequent (79-30%) HP:0000365
8 global developmental delay 56 32 Very frequent (99-80%) HP:0001263
9 optic atrophy 56 32 Very frequent (99-80%) HP:0000648
10 abnormality of retinal pigmentation 56 32 Occasional (29-5%) HP:0007703
11 blindness 56 32 Frequent (79-30%) HP:0000618
12 abnormality of visual evoked potentials 56 32 Frequent (79-30%) HP:0000649
13 hypertonia 56 32 Frequent (79-30%) HP:0001276
14 flexion contracture 56 32 Occasional (29-5%) HP:0001371
15 gastroesophageal reflux 56 32 Frequent (79-30%) HP:0002020
16 feeding difficulties in infancy 56 32 Very frequent (99-80%) HP:0008872
17 cognitive impairment 56 32 Very frequent (99-80%) HP:0100543
18 opisthotonus 32 HP:0002179
19 brain atrophy 32 HP:0012444
20 nystagmus 32 HP:0000639
21 visual impairment 56 Frequent (79-30%)
22 generalized seizures 32 HP:0002197
23 delayed closure of the anterior fontanelle 32 HP:0001476
24 cns demyelination 32 HP:0007305
25 aplasia/hypoplasia involving the central nervous system 32 HP:0002977

UMLS symptoms related to Canavan Disease:


opisthotonus

MGI Mouse Phenotypes related to Canavan Disease:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.43 AKAP5 ALDH5A1 ASPA BRCA1 GRIA3 NAT8L
2 nervous system MP:0003631 9.1 AKAP5 ALDH5A1 ASPA BRCA1 GRIA3 NAT8L

Drugs & Therapeutics for Canavan Disease

Drugs for Canavan Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glycerol Approved, Experimental Phase 4 56-81-5 753
2 4-phenylbutyric acid Phase 4
3 Protective Agents Phase 4
4
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
5 Antifungal Agents Phase 2
6 Anti-Infective Agents Phase 2
7
Triacetin Phase 2 102-76-1 5541

Interventional clinical trials:


id Name Status NCT ID Phase
1 To Evaluate the Safety of Long-term Use of HPN-100 in the Management of Urea Cycle Disorders (UCDs) Completed NCT01257737 Phase 4
2 A Study of the Safety, Efficacy and Pharmacokinetics of Glycerol Phenylbutyrate in Pediatric Subjects Under 2 Years of Age With Urea Cycle Disorders (UCDs) Active, not recruiting NCT02246218 Phase 4
3 ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases Terminated NCT00654433 Phase 3
4 Lithium and Acetate for Canavan Disease Withdrawn NCT00657748 Phase 2
5 GTA-Glyceryltriacetate for Canavan Disease Unknown status NCT00278707 Phase 1
6 Oral Glyceryl Triacetate (GTA) in Newborns With Canavan Unknown status NCT00724802
7 A Natural History Study of Canavan Disease Recruiting NCT02851563
8 Efficacy Study of an Online Educational Module Before Carrier Genetic Screening in Persons of Ashkenazi Jewish Descent. Active, not recruiting NCT01999257

Search NIH Clinical Center for Canavan Disease

Cochrane evidence based reviews: canavan disease

Genetic Tests for Canavan Disease

Genetic tests related to Canavan Disease:

id Genetic test Affiliating Genes
1 Spongy Degeneration of Central Nervous System 29
2 Canavan Disease 24 ASPA

Anatomical Context for Canavan Disease

MalaCards organs/tissues related to Canavan Disease:

39
Brain, Testes, Skin

Publications for Canavan Disease

Articles related to Canavan Disease:

(show top 50) (show all 171)
id Title Authors Year
1
Redirecting N-acetylaspartate metabolism in the central nervous system normalizes myelination and rescues Canavan disease. ( 28194442 )
2017
2
Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity. ( 28101991 )
2017
3
Docking, molecular dynamics and free energy studies on aspartoacylase mutations involved in Canavan disease. ( 28349879 )
2017
4
Rescuing Canavan disease: engineering the wrong cell at the right time. ( 28374337 )
2017
5
Two patients with Canavan disease and structural modeling of a novel mutation. ( 27531131 )
2016
6
Design and optimization of aspartate N-acetyltransferase inhibitors for the potential treatment of Canavan disease. ( 28007430 )
2016
7
Novel mutation in an Egyptian patient with infantile Canavan disease. ( 26613958 )
2016
8
Spongy White Matter: A Novel Neuroimaging Finding in Canavan Disease. ( 26791240 )
2016
9
Non-genetic therapeutic approaches to Canavan disease. ( 27288788 )
2016
10
A case of Canavan disease with microcephaly. ( 26992473 )
2016
11
Cytotoxic edema and diffusion restriction as an early pathoradiologic marker in canavan disease: case report and review of the literature. ( 27927234 )
2016
12
Atypical clinical and radiological course of a patient with Canavan disease. ( 26586007 )
2016
13
A Novel Mutation in Aspartoacylase Gene; Canavan Disease. ( 26664442 )
2015
14
Leukodystrophy with multiple beaded periventricular cysts: unusual cranial MRI results in Canavan disease. ( 25647544 )
2015
15
Canavan disease: an Arab scenario. ( 25668701 )
2015
16
An atypical case of Canavan disease with stroke-like presentation. ( 25497124 )
2015
17
N-Acetylaspartate Synthase Deficiency Corrects the Myelin Phenotype in a Canavan Disease Mouse Model But Does Not Affect Survival Time. ( 26511242 )
2015
18
Ablating N-acetylaspartate prevents leukodystrophy in a Canavan disease model. ( 25712859 )
2015
19
Canavan disease: clinical features and recent advances in research. ( 24977939 )
2014
20
Loss of central auditory processing in a mouse model of Canavan disease. ( 24826990 )
2014
21
Canavan disease - unusual imaging features in a child with mild clinical presentation. ( 25107638 )
2014
22
Aspartoacylase catalytic deficiency as the cause of Canavan disease: a structural perspective. ( 25003821 )
2014
23
Brain ultrasound in Canavan disease. ( 25177395 )
2014
24
Astroglial Redistribution of Aquaporin 4 During Spongy Degeneration in a Canavan Disease Mouse Model. ( 24272958 )
2013
25
A thematic review of scientific and family interests in Canavan Disease: where are the developmentalists? ( 22676184 )
2013
26
Dietary triheptanoin rescues oligodendrocyte loss, dysmyelination and motor function in the nur7 mouse model of Canavan disease. ( 24288037 )
2013
27
New T530C mutation in the aspartoacylase gene caused Canavan disease with no correlation between severity and N-acetylaspartate excretion. ( 24036223 )
2013
28
Canavan disease, a rare early-onset human spongiform leukodystrophy: insights into its genesis and possible clinical interventions. ( 23151389 )
2013
29
Relationship between enzyme properties and disease progression in Canavan disease. ( 22850825 )
2013
30
Radiological clue to diagnosis of Canavan disease. ( 22660905 )
2013
31
Molecular characterisation and prenatal diagnosis of Asparto-acylase deficiency (Canavan disease)--report of two novel and two known mutations from the Indian subcontinent. ( 22878930 )
2013
32
A mutation of aspartoacylase gene in a Turkish patient with Canavan disease. ( 22611636 )
2012
33
Lithium citrate as treatment of Canavan disease. ( 22592512 )
2012
34
A novel aspartoacylase (ASPA) gene mutation in Canavan disease. ( 22468686 )
2012
35
Long-term follow-up after gene therapy for canavan disease. ( 23253610 )
2012
36
A missense mutation (p.G274R) in gene ASPA causes Canavan disease in a Pakistani family. ( 22219087 )
2012
37
Expression of aspartoacylase (ASPA) and Canavan disease. ( 22750302 )
2012
38
Teaching NeuroImages: honeycomb appearance of the brain in a patient with Canavan disease. ( 21444896 )
2011
39
Modification of aspartoacylase for potential use in enzyme replacement therapy for the treatment of Canavan disease. ( 21095151 )
2011
40
Aspartoacylase-lacZ knockin mice: an engineered model of Canavan disease. ( 21625469 )
2011
41
Canavan disease: a novel mutation. ( 21907889 )
2011
42
Chromosomal 17p13.3 microdeletion unmasking recessive Canavan disease mutation. ( 22019069 )
2011
43
A safety trial of high dose glyceryl triacetate for Canavan disease. ( 21474353 )
2011
44
A 439 kb-sized homozygous deletion in 17p13.3 leading to biallelic loss of the ASPA as cause of Canavan disease detected by SNP-array analysis. ( 19932039 )
2010
45
Lithium citrate reduces excessive intra-cerebral N-acetyl aspartate in Canavan disease. ( 20034825 )
2010
46
Two novel missense mutations in the aspartoacylase gene in a Chinese patient with congenital Canavan disease. ( 20129749 )
2010
47
Upregulation of N-acetylaspartic acid resulting nitric oxide toxicity induces aspartoacylase mutations and protein interaction to cause pathophysiology seen in Canavan disease. ( 20673702 )
2010
48
Metabolic acetate therapy improves phenotype in the tremor rat model of Canavan disease. ( 20464498 )
2010
49
Impact of gene patents and licensing practices on access to genetic testing and carrier screening for Tay-Sachs and Canavan disease. ( 20393311 )
2010
50
Are astrocytes the missing link between lack of brain aspartoacylase activity and the spongiform leukodystrophy in Canavan disease? ( 19319678 )
2009

Variations for Canavan Disease

UniProtKB/Swiss-Prot genetic disease variations for Canavan Disease:

66 (show all 42)
id Symbol AA change Variation ID SNP ID
1 ASPA p.Ile143Thr VAR_004995 rs777936704
2 ASPA p.Cys152Arg VAR_004996 rs104894548
3 ASPA p.Gly274Arg VAR_004998 rs761064915
4 ASPA p.Glu285Ala VAR_004999 rs28940279
5 ASPA p.Phe295Ser VAR_005000
6 ASPA p.Ala305Glu VAR_005001 rs28940574
7 ASPA p.His21Pro VAR_016778
8 ASPA p.Ala57Thr VAR_016779
9 ASPA p.Arg168His VAR_016780 rs770706390
10 ASPA p.Pro181Thr VAR_016781 rs786204572
11 ASPA p.Glu24Gly VAR_016782 rs104894551
12 ASPA p.Asp68Ala VAR_016783
13 ASPA p.Asp114Tyr VAR_016784
14 ASPA p.Cys152Trp VAR_016785
15 ASPA p.Tyr231Cys VAR_016786 rs104894550
16 ASPA p.His244Arg VAR_016787
17 ASPA p.Asp249Val VAR_016788 rs104894552
18 ASPA p.Ile16Thr VAR_039079 rs769653717
19 ASPA p.Gly27Arg VAR_039080 rs766328537
20 ASPA p.Asp114Glu VAR_039081
21 ASPA p.Gly123Glu VAR_039082
22 ASPA p.Cys152Tyr VAR_039083
23 ASPA p.Arg168Cys VAR_039084
24 ASPA p.Pro183His VAR_039085
25 ASPA p.Val186Phe VAR_039086
26 ASPA p.Met195Arg VAR_039087
27 ASPA p.Pro280Leu VAR_039088
28 ASPA p.Pro280Ser VAR_039089 rs750505963
29 ASPA p.Ala287Thr VAR_039090 rs774323189
30 ASPA p.Glu24Lys VAR_078086
31 ASPA p.Leu30Pro VAR_078087
32 ASPA p.Ala57Val VAR_078088
33 ASPA p.Arg63Thr VAR_078089
34 ASPA p.Leu69Arg VAR_078090
35 ASPA p.Gly101Val VAR_078091
36 ASPA p.Glu129Lys VAR_078092
37 ASPA p.Ile170Thr VAR_078093
38 ASPA p.Ile177Thr VAR_078094
39 ASPA p.Gly180Val VAR_078095
40 ASPA p.Asp204His VAR_078096
41 ASPA p.Gln248Arg VAR_078097
42 ASPA p.Ala286Asp VAR_078098

ClinVar genetic disease variations for Canavan Disease:

6 (show all 33)
id Gene Variation Type Significance SNP ID Assembly Location
1 ASPA NM_000049.2(ASPA): c.854A> C (p.Glu285Ala) single nucleotide variant Pathogenic rs28940279 GRCh37 Chromosome 17, 3402294: 3402294
2 ASPA NM_001128085.1(ASPA): c.454T> C (p.Cys152Arg) single nucleotide variant Pathogenic rs104894548 GRCh37 Chromosome 17, 3386814: 3386814
3 ASPA NM_000049.2(ASPA): c.914C> A (p.Ala305Glu) single nucleotide variant Pathogenic rs28940574 GRCh37 Chromosome 17, 3402354: 3402354
4 ASPA NM_001128085.1(ASPA): c.654C> A (p.Cys218Ter) single nucleotide variant Pathogenic rs104894549 GRCh37 Chromosome 17, 3397663: 3397663
5 ASPA NM_000049.2(ASPA): c.693C> A (p.Tyr231Ter) single nucleotide variant Pathogenic rs12948217 GRCh37 Chromosome 17, 3397702: 3397702
6 ASPA ASPA, 4-BP DEL, 876AGAA deletion Pathogenic
7 ASPA ASPA, 1-BP DEL, 32T deletion Pathogenic
8 ASPA NM_001128085.1(ASPA): c.692A> G (p.Tyr231Cys) single nucleotide variant Pathogenic rs104894550 GRCh37 Chromosome 17, 3397701: 3397701
9 ASPA ASPA, EX4DEL deletion Pathogenic
10 ASPA NM_001128085.1(ASPA): c.71A> G (p.Glu24Gly) single nucleotide variant Pathogenic rs104894551 GRCh37 Chromosome 17, 3379524: 3379524
11 ASPA NM_000049.2(ASPA): c.746A> T (p.Asp249Val) single nucleotide variant Pathogenic/Likely pathogenic rs104894552 GRCh37 Chromosome 17, 3402186: 3402186
12 ASPA NM_000049.2(ASPA): c.212G> A (p.Arg71His) single nucleotide variant Pathogenic/Likely pathogenic rs104894553 GRCh37 Chromosome 17, 3379665: 3379665
13 ASPA NM_001128085.1(ASPA): c.433-2A> G single nucleotide variant Pathogenic rs63751297 GRCh37 Chromosome 17, 3386791: 3386791
14 ASPA NM_000049.2(ASPA): c.32delT (p.Ile11Asnfs) deletion Likely pathogenic rs767666474 GRCh37 Chromosome 17, 3379485: 3379485
15 ASPA NM_000049.2(ASPA): c.79G> A (p.Gly27Arg) single nucleotide variant Likely pathogenic rs766328537 GRCh37 Chromosome 17, 3379532: 3379532
16 ASPA NM_000049.2(ASPA): c.244_245delAT (p.Met82Valfs) deletion Likely pathogenic rs786204620 GRCh37 Chromosome 17, 3384904: 3384905
17 ASPA NM_000049.2(ASPA): c.541C> A (p.Pro181Thr) single nucleotide variant Likely pathogenic rs786204572 GRCh37 Chromosome 17, 3392543: 3392543
18 ASPA NM_000049.2(ASPA): c.820G> A (p.Gly274Arg) single nucleotide variant Likely pathogenic rs761064915 GRCh37 Chromosome 17, 3402260: 3402260
19 ASPA NM_000049.2(ASPA): c.859G> A (p.Ala287Thr) single nucleotide variant Likely pathogenic rs774323189 GRCh37 Chromosome 17, 3402299: 3402299
20 ASPA NM_000049.2(ASPA): c.2T> C (p.Met1Thr) single nucleotide variant Likely pathogenic rs1057516879 GRCh37 Chromosome 17, 3379455: 3379455
21 ASPA NM_000049.2(ASPA): c.237-1G> T single nucleotide variant Likely pathogenic rs1057517291 GRCh37 Chromosome 17, 3384896: 3384896
22 ASPA NM_000049.2(ASPA): c.244dupA (p.Met82Asnfs) duplication Likely pathogenic rs1057516583 GRCh37 Chromosome 17, 3384904: 3384904
23 ASPA NM_000049.2(ASPA): c.245delT (p.Met82Serfs) deletion Likely pathogenic rs1057516962 GRCh38 Chromosome 17, 3481611: 3481611
24 ASPA NM_000049.2(ASPA): c.640G> T (p.Glu214Ter) single nucleotide variant Likely pathogenic rs1057516416 GRCh37 Chromosome 17, 3397649: 3397649
25 ASPA NM_000049.2(ASPA): c.650_651delCC (p.Pro217Leufs) deletion Likely pathogenic rs1057516498 GRCh38 Chromosome 17, 3494365: 3494366
26 ASPA NM_000049.2(ASPA): c.697delC (p.Arg233Glyfs) deletion Likely pathogenic rs1057516315 GRCh37 Chromosome 17, 3397706: 3397706
27 ASPA NM_000049.2(ASPA): c.731A> G (p.His244Arg) single nucleotide variant Likely pathogenic rs1057516995 GRCh38 Chromosome 17, 3494446: 3494446
28 ASPA NM_000049.2(ASPA): c.745-2A> G single nucleotide variant Likely pathogenic rs1057517066 GRCh37 Chromosome 17, 3402183: 3402183
29 ASPA NM_000049.2(ASPA): c.827_828delGT (p.Cys276Tyrfs) deletion Likely pathogenic rs1057517085 GRCh38 Chromosome 17, 3498973: 3498974
30 ASPA NM_000049.2(ASPA): c.867C> A (p.Tyr289Ter) single nucleotide variant Likely pathogenic rs375736464 GRCh38 Chromosome 17, 3499013: 3499013
31 ASPA NM_000049.2(ASPA): c.876_879delAGAA (p.Glu293Leufs) deletion Likely pathogenic rs1057517450 GRCh38 Chromosome 17, 3499022: 3499025
32 ASPA NM_000049.2(ASPA): c.922delA (p.Ile308Phefs) deletion Likely pathogenic rs1057516309 GRCh38 Chromosome 17, 3499068: 3499068
33 ASPA NM_000049.2(ASPA): c.924delT (p.Arg309Alafs) deletion Likely pathogenic rs1057517260 GRCh37 Chromosome 17, 3402364: 3402364

Expression for Canavan Disease

Search GEO for disease gene expression data for Canavan Disease.

Pathways for Canavan Disease

GO Terms for Canavan Disease

Cellular components related to Canavan Disease according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 8.8 ALDH5A1 GLUD1 NAT8L

Biological processes related to Canavan Disease according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cellular amino acid biosynthetic process GO:0008652 9.02 ASPA FOLH1 GLUD1 GPT NAT8L
2 glutamine metabolic process GO:0006541 8.96 ALDH5A1 GLUD1

Sources for Canavan Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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