MCID: CNV004
MIFTS: 55

Canavan Disease

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

Aliases & Classifications for Canavan Disease

MalaCards integrated aliases for Canavan Disease:

Name: Canavan Disease 54 12 72 23 50 24 25 51 56 71 13 52 42 14 69
Aspartoacylase Deficiency 23 50 24 25 56 71
Aminoacylase 2 Deficiency 50 25 56 71 69
Aspa Deficiency 23 50 24 25 71
Acy2 Deficiency 50 25 56 71
Spongy Degeneration of Central Nervous System 12 71 29
Canavan-Van Bogaert-Bertrand Disease 12 50 71
Spongy Degeneration of the Central Nervous System 50
Spongy Degeneration of the Brain 56
Von Bogaert-Bertrand Disease 50
Canavan's Disease 25
Asp Deficiency 50
Aspartoacylase 13
Cand 71

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;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
normal first month
onset of symptoms at 2-4 months
prevalent in ashkenazi jews
death within first decade


HPO:

32
canavan disease:
Inheritance autosomal recessive inheritance


Classifications:



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. Symptoms of Canavan disease usually appear in the first 3 to 6 months of life and progress rapidly.  Symptoms include lack of motor development, feeding difficulties, abnormal muscle tone (weakness or stiffness), and an abnormally large, poorly controlled head. Paralysis, blindness, or hearing loss may also occur. Children are characteristically quiet and apathetic. Although Canavan disease may occur in any ethnic group, it is more frequent among Ashkenazi Jews from eastern Poland, Lithuania, and western Russia, and among Saudi Arabians. Canavan disease can be identified by a simple prenatal blood test that screens for the missing enzyme or for mutations in the gene that controls aspartoacylase. Both parents must be carriers of the defective gene in order to have an affected child. When both parents are found to carry the Canavan gene mutation, there is a one in four (25 percent) chance with each pregnancy that the child will be affected with Canavan disease.

MalaCards based summary : Canavan Disease, also known as aspartoacylase deficiency, is related to mild canavan disease and severe canavan disease, and has symptoms including optic atrophy, cognitive impairment and seizures. 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 Miconazole and Triacetin 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

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.

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 : 71 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.

Wikipedia : 72 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 15)
id Related Disease Score Top Affiliating Genes
1 mild canavan disease 11.9
2 severe canavan disease 11.9
3 leukodystrophy 11.3
4 tremor 10.0
5 candidiasis 9.9
6 succinic semialdehyde dehydrogenase deficiency 9.7
7 cholelithiasis 9.7
8 microcephaly 9.7
9 atypical teratoid rhabdoid tumor 9.7
10 cerebritis 9.7
11 neuronitis 9.7
12 hypotonia 9.7
13 megalencephaly 9.7
14 bardet-biedl syndrome 9.5 BRCA1 FOLH1
15 glycogen storage disease xiii 6.1 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 via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
optic atrophy
nystagmus
blindness

Head And Neck- Ears:
deafness

Laboratory- Abnormalities:
spongy degeneration of brain on histology
increased n-acetyl-l-aspartic acid (naa) in urine, csf, and blood
reduced aspartoacylase activity in cultured skin fibroblasts

Neurologic- Central Nervous System:
generalized seizures
brain atrophy
opisthotonus
initial hypotonia, followed by spasticity
loss of very early milestones
more
Head And Neck- Head:
increased head circumference
delayed closure of anterior fontanelle


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 optic atrophy 56 32 hallmark (90%) Very frequent (99-80%) HP:0000648
2 cognitive impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0100543
3 seizures 56 32 occasional (7.5%) Occasional (29-5%) HP:0001250
4 hypertonia 56 32 frequent (33%) Frequent (79-30%) HP:0001276
5 global developmental delay 56 32 hallmark (90%) Very frequent (99-80%) HP:0001263
6 gastroesophageal reflux 56 32 frequent (33%) Frequent (79-30%) HP:0002020
7 macrocephaly 56 32 frequent (33%) Frequent (79-30%) HP:0000256
8 blindness 56 32 frequent (33%) Frequent (79-30%) HP:0000618
9 muscular hypotonia 56 32 frequent (33%) Frequent (79-30%) HP:0001252
10 feeding difficulties in infancy 56 32 hallmark (90%) Very frequent (99-80%) HP:0008872
11 developmental regression 56 32 occasional (7.5%) Occasional (29-5%) HP:0002376
12 hearing impairment 56 32 frequent (33%) Frequent (79-30%) HP:0000365
13 eeg abnormality 56 32 hallmark (90%) Very frequent (99-80%) HP:0002353
14 abnormality of retinal pigmentation 56 32 occasional (7.5%) Occasional (29-5%) HP:0007703
15 abnormality of visual evoked potentials 56 32 frequent (33%) Frequent (79-30%) HP:0000649
16 flexion contracture 56 32 occasional (7.5%) Occasional (29-5%) HP:0001371
17 reduced consciousness/confusion 56 32 hallmark (90%) Very frequent (99-80%) HP:0004372
18 visual impairment 56 Frequent (79-30%)
19 nystagmus 32 HP:0000639
20 generalized seizures 32 HP:0002197
21 brain atrophy 32 HP:0012444
22 opisthotonus 32 HP:0002179
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 GRIA3 NAT8L AKAP5 ALDH5A1 ASPA BRCA1

Drugs & Therapeutics for Canavan Disease

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
2
Triacetin Phase 2 102-76-1 5541
3 Anti-Infective Agents Phase 2
4 Antifungal Agents Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases Terminated NCT00654433 Phase 3
2 Lithium and Acetate for Canavan Disease Withdrawn NCT00657748 Phase 2 Lithium Gluconate (drug) Glyceryl Triacetate GTA (drug)
3 GTA-Glyceryltriacetate for Canavan Disease Unknown status NCT00278707 Phase 1 GTA: Glyceryltriacetate
4 Oral Glyceryl Triacetate (GTA) in Newborns With Canavan Unknown status NCT00724802 GTA glyceryl triacetate
5 Efficacy Study of an Online Educational Module Before Carrier Genetic Screening in Persons of Ashkenazi Jewish Descent. Completed NCT01999257
6 A Natural History Study of Canavan Disease Recruiting NCT02851563

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 174)
id Title Authors Year
1
Canavan disease with typical brain MRI and MRS findings. ( 28879937 )
2017
2
Redirecting N-acetylaspartate metabolism in the central nervous system normalizes myelination and rescues Canavan disease. ( 28194442 )
2017
3
Increasing N-acetylaspartate in the Brain during Postnatal Myelination Does Not Cause the CNS Pathologies of Canavan Disease. ( 28626388 )
2017
4
Docking, molecular dynamics and free energy studies on aspartoacylase mutations involved in Canavan disease. ( 28349879 )
2017
5
Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity. ( 28101991 )
2017
6
Rescuing Canavan disease: engineering the wrong cell at the right time. ( 28374337 )
2017
7
Canavan Disease ( 28613566 )
2017
8
Atypical clinical and radiological course of a patient with Canavan disease. ( 26586007 )
2016
9
Design and optimization of aspartate N-acetyltransferase inhibitors for the potential treatment of Canavan disease. ( 28007430 )
2016
10
Two patients with Canavan disease and structural modeling of a novel mutation. ( 27531131 )
2016
11
A case of Canavan disease with microcephaly. ( 26992473 )
2016
12
Spongy White Matter: A Novel Neuroimaging Finding in Canavan Disease. ( 26791240 )
2016
13
Cytotoxic edema and diffusion restriction as an early pathoradiologic marker in canavan disease: case report and review of the literature. ( 27927234 )
2016
14
Novel mutation in an Egyptian patient with infantile Canavan disease. ( 26613958 )
2016
15
Non-genetic therapeutic approaches to Canavan disease. ( 27288788 )
2016
16
N-Acetylaspartate Synthase Deficiency Corrects the Myelin Phenotype in a Canavan Disease Mouse Model But Does Not Affect Survival Time. ( 26511242 )
2015
17
Leukodystrophy with multiple beaded periventricular cysts: unusual cranial MRI results in Canavan disease. ( 25647544 )
2015
18
A Novel Mutation in Aspartoacylase Gene; Canavan Disease. ( 26664442 )
2015
19
Ablating N-acetylaspartate prevents leukodystrophy in a Canavan disease model. ( 25712859 )
2015
20
An atypical case of Canavan disease with stroke-like presentation. ( 25497124 )
2015
21
Canavan disease: an Arab scenario. ( 25668701 )
2015
22
Canavan disease: clinical features and recent advances in research. ( 24977939 )
2014
23
Canavan disease - unusual imaging features in a child with mild clinical presentation. ( 25107638 )
2014
24
Brain ultrasound in Canavan disease. ( 25177395 )
2014
25
Aspartoacylase catalytic deficiency as the cause of Canavan disease: a structural perspective. ( 25003821 )
2014
26
Loss of central auditory processing in a mouse model of Canavan disease. ( 24826990 )
2014
27
Astroglial Redistribution of Aquaporin 4 During Spongy Degeneration in a Canavan Disease Mouse Model. ( 24272958 )
2013
28
New T530C mutation in the aspartoacylase gene caused Canavan disease with no correlation between severity and N-acetylaspartate excretion. ( 24036223 )
2013
29
Relationship between enzyme properties and disease progression in Canavan disease. ( 22850825 )
2013
30
A thematic review of scientific and family interests in Canavan Disease: where are the developmentalists? ( 22676184 )
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
Radiological clue to diagnosis of Canavan disease. ( 22660905 )
2013
33
Canavan disease, a rare early-onset human spongiform leukodystrophy: insights into its genesis and possible clinical interventions. ( 23151389 )
2013
34
Dietary triheptanoin rescues oligodendrocyte loss, dysmyelination and motor function in the nur7 mouse model of Canavan disease. ( 24288037 )
2013
35
A mutation of aspartoacylase gene in a Turkish patient with Canavan disease. ( 22611636 )
2012
36
A novel aspartoacylase (ASPA) gene mutation in Canavan disease. ( 22468686 )
2012
37
A missense mutation (p.G274R) in gene ASPA causes Canavan disease in a Pakistani family. ( 22219087 )
2012
38
Long-term follow-up after gene therapy for canavan disease. ( 23253610 )
2012
39
Lithium citrate as treatment of Canavan disease. ( 22592512 )
2012
40
Expression of aspartoacylase (ASPA) and Canavan disease. ( 22750302 )
2012
41
Modification of aspartoacylase for potential use in enzyme replacement therapy for the treatment of Canavan disease. ( 21095151 )
2011
42
A safety trial of high dose glyceryl triacetate for Canavan disease. ( 21474353 )
2011
43
Teaching NeuroImages: honeycomb appearance of the brain in a patient with Canavan disease. ( 21444896 )
2011
44
Aspartoacylase-lacZ knockin mice: an engineered model of Canavan disease. ( 21625469 )
2011
45
Canavan disease: a novel mutation. ( 21907889 )
2011
46
Chromosomal 17p13.3 microdeletion unmasking recessive Canavan disease mutation. ( 22019069 )
2011
47
Metabolic acetate therapy improves phenotype in the tremor rat model of Canavan disease. ( 20464498 )
2010
48
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
49
Lithium citrate reduces excessive intra-cerebral N-acetyl aspartate in Canavan disease. ( 20034825 )
2010
50
Upregulation of N-acetylaspartic acid resulting nitric oxide toxicity induces aspartoacylase mutations and protein interaction to cause pathophysiology seen in Canavan disease. ( 20673702 )
2010

Variations for Canavan Disease

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

71 (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 rs776777887
35 ASPA p.Gly101Val VAR_078091
36 ASPA p.Glu129Lys VAR_078092 rs773049803
37 ASPA p.Ile170Thr VAR_078093 rs144321760
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 Pathogenic/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 GRCh38 Chromosome 17, 3476161: 3476161
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 GRCh37 Chromosome 17, 3397740: 3397740
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 GRCh37 Chromosome 17, 3402316: 3402319
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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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