MCID: CNV004
MIFTS: 56

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 57 12 76 24 53 25 54 59 75 37 13 55 44 15 73
Spongy Degeneration of Central Nervous System 57 12 75 29 6 40
Aspartoacylase Deficiency 57 24 53 25 59 75
Aminoacylase 2 Deficiency 57 53 25 59 75 73
Aspa Deficiency 57 24 53 25 75
Acy2 Deficiency 57 53 25 59 75
Canavan-Van Bogaert-Bertrand Disease 57 12 53 75
Canavan Disease, Mild 29 6
Asp Deficiency 57 53
Spongy Degeneration of the Central Nervous System 53
Spongy Degeneration of the Brain 59
Von Bogaert-Bertrand Disease 53
Canavan Disease, Infantile 73
Infantile Canavan Disease 59
Canavan Disease, Juvenile 73
Canavan Disease, Neonatal 73
Juvenile Canavan Disease 59
Neonatal Canavan Disease 59
Severe Canavan Disease 59
Mild Canavan Disease 59
Canavan's Disease 25
Aspartoacylase 13
Cand 75

Characteristics:

Orphanet epidemiological data:

59
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;
mild canavan disease
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Europe); Age of onset: Childhood; Age of death: adolescent,late childhood;
severe canavan disease
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood;

OMIM:

57
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 : 54 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 spongy degeneration of central nervous system, is related to leukodystrophy and candidiasis, and has symptoms including opisthotonus An important gene associated with Canavan Disease is ASPA (Aspartoacylase), and among its related pathways/superpathways are Alanine, aspartate and glutamate metabolism and Metabolism. The drugs Miconazole and Antifungal Agents have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and skin, and related phenotypes are macrocephaly and intellectual disability

UniProtKB/Swiss-Prot : 75 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.

NIH Rare Diseases : 53 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.  

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

(show all 13)
# Related Disease Score Top Affiliating Genes
1 leukodystrophy 11.4
2 candidiasis 10.1
3 tremor 10.1
4 succinic semialdehyde dehydrogenase deficiency 9.8
5 cholelithiasis 9.8
6 microcephaly 9.8
7 atypical teratoid rhabdoid tumor 9.8
8 cerebritis 9.8
9 rhabdoid cancer 9.8
10 neuronitis 9.8
11 hypotonia 9.8
12 megalencephaly 9.8
13 bardet-biedl syndrome 2 9.2 ASPA BRCA1

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:

57
Neurologic Central Nervous System:
brain atrophy
generalized seizures
opisthotonus
initial hypotonia, followed by spasticity
loss of very early milestones
more
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

Head And Neck Eyes:
nystagmus
optic atrophy
blindness

Head And Neck Head:
delayed closure of anterior fontanelle
increased head circumference


Clinical features from OMIM:

271900

Human phenotypes related to Canavan Disease:

59 32 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 frequent (33%) Frequent (79-30%),Very frequent (99-80%) HP:0000256
2 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
3 seizures 59 32 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%) HP:0001250
4 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%),Very frequent (99-80%) HP:0001252
5 spasticity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001257
6 dysphagia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002015
7 eeg abnormality 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002353
8 sleep disturbance 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002360
9 developmental regression 59 32 occasional (7.5%) Occasional (29-5%) HP:0002376
10 hearing impairment 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000365
11 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001263
12 delayed speech and language development 59 32 hallmark (90%) Very frequent (99-80%) HP:0000750
13 optic atrophy 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000648
14 abnormality of retinal pigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0007703
15 blindness 59 32 frequent (33%) Frequent (79-30%) HP:0000618
16 abnormality of visual evoked potentials 59 32 frequent (33%) Frequent (79-30%),Very frequent (99-80%) HP:0000649
17 hypertonia 59 32 frequent (33%) Frequent (79-30%) HP:0001276
18 flexion contracture 59 32 occasional (7.5%) Occasional (29-5%) HP:0001371
19 gastroesophageal reflux 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002020
20 reduced consciousness/confusion 59 32 hallmark (90%) Very frequent (99-80%) HP:0004372
21 feeding difficulties in infancy 59 32 hallmark (90%) Very frequent (99-80%) HP:0008872
22 cognitive impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0100543
23 visual loss 59 32 frequent (33%) Frequent (79-30%) HP:0000572
24 coma 59 32 hallmark (90%) Very frequent (99-80%) HP:0001259
25 lethargy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001254
26 iris hypopigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0007730
27 mild global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0011342
28 brain atrophy 32 HP:0012444
29 nystagmus 32 HP:0000639
30 visual impairment 59 Frequent (79-30%)
31 generalized seizures 32 HP:0002197
32 opisthotonus 32 HP:0002179
33 delayed closure of the anterior fontanelle 32 HP:0001476
34 cns demyelination 32 HP:0007305
35 aplasia/hypoplasia involving the central nervous system 32 HP:0002977

UMLS symptoms related to Canavan Disease:


opisthotonus

MGI Mouse Phenotypes related to Canavan Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.43 ALDH5A1 ASPA BRCA1 GRIA3 NAT8L AKAP5
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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miconazole Approved, Investigational, Vet_approved Phase 2,Not Applicable 22916-47-8 4189
2 Antifungal Agents Phase 2,Not Applicable
3 Anti-Infective Agents Phase 2,Not Applicable
4
Triacetin Phase 2,Not Applicable 102-76-1 5541

Interventional clinical trials:


# 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 Not Applicable GTA glyceryl triacetate
5 Efficacy Study of an Online Educational Module Before Carrier Genetic Screening in Persons of Ashkenazi Jewish Descent. Completed NCT01999257 Not Applicable
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:

# Genetic test Affiliating Genes
1 Spongy Degeneration of Central Nervous System 29 ASPA
2 Canavan Disease, Mild 29

Anatomical Context for Canavan Disease

MalaCards organs/tissues related to Canavan Disease:

41
Brain, Testes, Skin

Publications for Canavan Disease

Articles related to Canavan Disease:

(show top 50) (show all 177)
# Title Authors Year
1
Brain Nat8l Knockdown Suppresses Spongiform Leukodystrophy in an Aspartoacylase-Deficient Canavan Disease Mouse Model. ( 29456021 )
2018
2
White matter disease: Targeted aspartoacylase gene therapy reverts Canavan disease. ( 29170500 )
2018
3
Uncoupling N-acetylaspartate from brain pathology: implications for Canavan disease gene therapy. ( 29116375 )
2018
4
Canavan Disease ( 28613566 )
2017
5
Rescuing Canavan disease: engineering the wrong cell at the right time. ( 28374337 )
2017
6
Canavan disease with typical brain MRI and MRS findings. ( 28879937 )
2017
7
Docking, molecular dynamics and free energy studies on aspartoacylase mutations involved in Canavan disease. ( 28349879 )
2017
8
Increasing N-acetylaspartate in the Brain during Postnatal Myelination Does Not Cause the CNS Pathologies of Canavan Disease. ( 28626388 )
2017
9
Redirecting N-acetylaspartate metabolism in the central nervous system normalizes myelination and rescues Canavan disease. ( 28194442 )
2017
10
Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity. ( 28101991 )
2017
11
Cytotoxic edema and diffusion restriction as an early pathoradiologic marker in canavan disease: case report and review of the literature. ( 27927234 )
2016
12
Spongy White Matter: A Novel Neuroimaging Finding in Canavan Disease. ( 26791240 )
2016
13
Novel mutation in an Egyptian patient with infantile Canavan disease. ( 26613958 )
2016
14
Non-genetic therapeutic approaches to Canavan disease. ( 27288788 )
2016
15
Atypical clinical and radiological course of a patient with Canavan disease. ( 26586007 )
2016
16
Design and optimization of aspartate N-acetyltransferase inhibitors for the potential treatment of Canavan disease. ( 28007430 )
2016
17
Two patients with Canavan disease and structural modeling of a novel mutation. ( 27531131 )
2016
18
A case of Canavan disease with microcephaly. ( 26992473 )
2016
19
An atypical case of Canavan disease with stroke-like presentation. ( 25497124 )
2015
20
Canavan disease: an Arab scenario. ( 25668701 )
2015
21
Ablating N-acetylaspartate prevents leukodystrophy in a Canavan disease model. ( 25712859 )
2015
22
A Novel Mutation in Aspartoacylase Gene; Canavan Disease. ( 26664442 )
2015
23
N-Acetylaspartate Synthase Deficiency Corrects the Myelin Phenotype in a Canavan Disease Mouse Model But Does Not Affect Survival Time. ( 26511242 )
2015
24
Leukodystrophy with multiple beaded periventricular cysts: unusual cranial MRI results in Canavan disease. ( 25647544 )
2015
25
Aspartoacylase catalytic deficiency as the cause of Canavan disease: a structural perspective. ( 25003821 )
2014
26
Canavan disease - unusual imaging features in a child with mild clinical presentation. ( 25107638 )
2014
27
Brain ultrasound in Canavan disease. ( 25177395 )
2014
28
Canavan disease: clinical features and recent advances in research. ( 24977939 )
2014
29
Loss of central auditory processing in a mouse model of Canavan disease. ( 24826990 )
2014
30
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
31
A thematic review of scientific and family interests in Canavan Disease: where are the developmentalists? ( 22676184 )
2013
32
New T530C mutation in the aspartoacylase gene caused Canavan disease with no correlation between severity and N-acetylaspartate excretion. ( 24036223 )
2013
33
Dietary triheptanoin rescues oligodendrocyte loss, dysmyelination and motor function in the nur7 mouse model of Canavan disease. ( 24288037 )
2013
34
Relationship between enzyme properties and disease progression in Canavan disease. ( 22850825 )
2013
35
Astroglial Redistribution of Aquaporin 4 During Spongy Degeneration in a Canavan Disease Mouse Model. ( 24272958 )
2013
36
Radiological clue to diagnosis of Canavan disease. ( 22660905 )
2013
37
Canavan disease, a rare early-onset human spongiform leukodystrophy: insights into its genesis and possible clinical interventions. ( 23151389 )
2013
38
Lithium citrate as treatment of Canavan disease. ( 22592512 )
2012
39
A novel aspartoacylase (ASPA) gene mutation in Canavan disease. ( 22468686 )
2012
40
A mutation of aspartoacylase gene in a Turkish patient with Canavan disease. ( 22611636 )
2012
41
A missense mutation (p.G274R) in gene ASPA causes Canavan disease in a Pakistani family. ( 22219087 )
2012
42
Expression of aspartoacylase (ASPA) and Canavan disease. ( 22750302 )
2012
43
Long-term follow-up after gene therapy for canavan disease. ( 23253610 )
2012
44
Teaching NeuroImages: honeycomb appearance of the brain in a patient with Canavan disease. ( 21444896 )
2011
45
A safety trial of high dose glyceryl triacetate for Canavan disease. ( 21474353 )
2011
46
Aspartoacylase-lacZ knockin mice: an engineered model of Canavan disease. ( 21625469 )
2011
47
Modification of aspartoacylase for potential use in enzyme replacement therapy for the treatment of Canavan disease. ( 21095151 )
2011
48
Canavan disease: a novel mutation. ( 21907889 )
2011
49
Chromosomal 17p13.3 microdeletion unmasking recessive Canavan disease mutation. ( 22019069 )
2011
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:

75 (show all 42)
# 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 rs1057516995Canavan
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 rs937670540
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 rs1014551540Canavan
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 top 50) (show all 89)
# 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_000049.2(ASPA): c.854A> C (p.Glu285Ala) single nucleotide variant Pathogenic rs28940279 GRCh38 Chromosome 17, 3499000: 3499000
3 ASPA NM_001128085.1(ASPA): c.454T> C (p.Cys152Arg) single nucleotide variant Pathogenic rs104894548 GRCh37 Chromosome 17, 3386814: 3386814
4 ASPA NM_001128085.1(ASPA): c.454T> C (p.Cys152Arg) single nucleotide variant Pathogenic rs104894548 GRCh38 Chromosome 17, 3483520: 3483520
5 ASPA NM_000049.2(ASPA): c.914C> A (p.Ala305Glu) single nucleotide variant Pathogenic rs28940574 GRCh37 Chromosome 17, 3402354: 3402354
6 ASPA NM_000049.2(ASPA): c.914C> A (p.Ala305Glu) single nucleotide variant Pathogenic rs28940574 GRCh38 Chromosome 17, 3499060: 3499060
7 ASPA NM_001128085.1(ASPA): c.654C> A (p.Cys218Ter) single nucleotide variant Pathogenic rs104894549 GRCh37 Chromosome 17, 3397663: 3397663
8 ASPA NM_001128085.1(ASPA): c.654C> A (p.Cys218Ter) single nucleotide variant Pathogenic rs104894549 GRCh38 Chromosome 17, 3494369: 3494369
9 ASPA NM_000049.2(ASPA): c.693C> A (p.Tyr231Ter) single nucleotide variant Pathogenic rs12948217 GRCh37 Chromosome 17, 3397702: 3397702
10 ASPA NM_000049.2(ASPA): c.693C> A (p.Tyr231Ter) single nucleotide variant Pathogenic rs12948217 GRCh38 Chromosome 17, 3494408: 3494408
11 ASPA ASPA, 4-BP DEL, 876AGAA deletion Pathogenic
12 ASPA ASPA, 1-BP DEL, 32T deletion Pathogenic
13 ASPA NM_001128085.1(ASPA): c.692A> G (p.Tyr231Cys) single nucleotide variant Pathogenic rs104894550 GRCh37 Chromosome 17, 3397701: 3397701
14 ASPA NM_001128085.1(ASPA): c.692A> G (p.Tyr231Cys) single nucleotide variant Pathogenic rs104894550 GRCh38 Chromosome 17, 3494407: 3494407
15 ASPA ASPA, EX4DEL deletion Pathogenic
16 ASPA NM_001128085.1(ASPA): c.71A> G (p.Glu24Gly) single nucleotide variant Pathogenic rs104894551 GRCh37 Chromosome 17, 3379524: 3379524
17 ASPA NM_001128085.1(ASPA): c.71A> G (p.Glu24Gly) single nucleotide variant Pathogenic rs104894551 GRCh38 Chromosome 17, 3476230: 3476230
18 ASPA NM_000049.2(ASPA): c.746A> T (p.Asp249Val) single nucleotide variant Likely pathogenic rs104894552 GRCh37 Chromosome 17, 3402186: 3402186
19 ASPA NM_000049.2(ASPA): c.746A> T (p.Asp249Val) single nucleotide variant Likely pathogenic rs104894552 GRCh38 Chromosome 17, 3498892: 3498892
20 ASPA NM_000049.2(ASPA): c.212G> A (p.Arg71His) single nucleotide variant Likely pathogenic rs104894553 GRCh37 Chromosome 17, 3379665: 3379665
21 ASPA NM_000049.2(ASPA): c.212G> A (p.Arg71His) single nucleotide variant Likely pathogenic rs104894553 GRCh38 Chromosome 17, 3476371: 3476371
22 ASPA NM_001128085.1(ASPA): c.433-2A> G single nucleotide variant Pathogenic rs63751297 GRCh37 Chromosome 17, 3386791: 3386791
23 ASPA NM_001128085.1(ASPA): c.433-2A> G single nucleotide variant Pathogenic rs63751297 GRCh38 Chromosome 17, 3483497: 3483497
24 ASPA NM_000049.2(ASPA): c.32delT (p.Ile11Asnfs) deletion Likely pathogenic rs767666474 GRCh37 Chromosome 17, 3379485: 3379485
25 ASPA NM_000049.2(ASPA): c.32delT (p.Ile11Asnfs) deletion Likely pathogenic rs767666474 GRCh38 Chromosome 17, 3476191: 3476191
26 ASPA NM_000049.2(ASPA): c.79G> A (p.Gly27Arg) single nucleotide variant Pathogenic/Likely pathogenic rs766328537 GRCh37 Chromosome 17, 3379532: 3379532
27 ASPA NM_000049.2(ASPA): c.79G> A (p.Gly27Arg) single nucleotide variant Pathogenic/Likely pathogenic rs766328537 GRCh38 Chromosome 17, 3476238: 3476238
28 ASPA NM_000049.2(ASPA): c.237-2A> T single nucleotide variant Conflicting interpretations of pathogenicity rs780936696 GRCh38 Chromosome 17, 3481601: 3481601
29 ASPA NM_000049.2(ASPA): c.237-2A> T single nucleotide variant Conflicting interpretations of pathogenicity rs780936696 GRCh37 Chromosome 17, 3384895: 3384895
30 ASPA NM_000049.2(ASPA): c.244_245delAT (p.Met82Valfs) deletion Likely pathogenic rs786204620 GRCh37 Chromosome 17, 3384904: 3384905
31 ASPA NM_000049.2(ASPA): c.244_245delAT (p.Met82Valfs) deletion Likely pathogenic rs786204620 GRCh38 Chromosome 17, 3481610: 3481611
32 ASPA NM_000049.2(ASPA): c.541C> A (p.Pro181Thr) single nucleotide variant Likely pathogenic rs786204572 GRCh37 Chromosome 17, 3392543: 3392543
33 ASPA NM_000049.2(ASPA): c.541C> A (p.Pro181Thr) single nucleotide variant Likely pathogenic rs786204572 GRCh38 Chromosome 17, 3489249: 3489249
34 ASPA NM_000049.2(ASPA): c.820G> A (p.Gly274Arg) single nucleotide variant Likely pathogenic rs761064915 GRCh37 Chromosome 17, 3402260: 3402260
35 ASPA NM_000049.2(ASPA): c.820G> A (p.Gly274Arg) single nucleotide variant Likely pathogenic rs761064915 GRCh38 Chromosome 17, 3498966: 3498966
36 ASPA NM_000049.2(ASPA): c.859G> A (p.Ala287Thr) single nucleotide variant Pathogenic/Likely pathogenic rs774323189 GRCh37 Chromosome 17, 3402299: 3402299
37 ASPA NM_000049.2(ASPA): c.859G> A (p.Ala287Thr) single nucleotide variant Pathogenic/Likely pathogenic rs774323189 GRCh38 Chromosome 17, 3499005: 3499005
38 ASPA NM_000049.2(ASPA): c.693C> T (p.Tyr231=) single nucleotide variant Benign/Likely benign rs12948217 GRCh37 Chromosome 17, 3397702: 3397702
39 ASPA NM_000049.2(ASPA): c.693C> T (p.Tyr231=) single nucleotide variant Benign/Likely benign rs12948217 GRCh38 Chromosome 17, 3494408: 3494408
40 ASPA NM_000049.2(ASPA): c.831C> T (p.Thr277=) single nucleotide variant Benign rs78677072 GRCh37 Chromosome 17, 3402271: 3402271
41 ASPA NM_000049.2(ASPA): c.831C> T (p.Thr277=) single nucleotide variant Benign rs78677072 GRCh38 Chromosome 17, 3498977: 3498977
42 ASPA NM_000049.2(ASPA): c.807G> A (p.Thr269=) single nucleotide variant Uncertain significance rs759106494 GRCh38 Chromosome 17, 3498953: 3498953
43 ASPA NM_000049.2(ASPA): c.807G> A (p.Thr269=) single nucleotide variant Uncertain significance rs759106494 GRCh37 Chromosome 17, 3402247: 3402247
44 ASPA NM_000049.2(ASPA): c.906G> A (p.Thr302=) single nucleotide variant Uncertain significance rs371394875 GRCh38 Chromosome 17, 3499052: 3499052
45 ASPA NM_000049.2(ASPA): c.906G> A (p.Thr302=) single nucleotide variant Uncertain significance rs371394875 GRCh37 Chromosome 17, 3402346: 3402346
46 ASPA NM_000049.2(ASPA): c.-152C> T single nucleotide variant Uncertain significance rs886052821 GRCh38 Chromosome 17, 3476008: 3476008
47 ASPA NM_000049.2(ASPA): c.-152C> T single nucleotide variant Uncertain significance rs886052821 GRCh37 Chromosome 17, 3379302: 3379302
48 ASPA NM_000049.2(ASPA): c.905C> T (p.Thr302Met) single nucleotide variant Uncertain significance rs763869261 GRCh38 Chromosome 17, 3499051: 3499051
49 ASPA NM_000049.2(ASPA): c.905C> T (p.Thr302Met) single nucleotide variant Uncertain significance rs763869261 GRCh37 Chromosome 17, 3402345: 3402345
50 ASPA NM_000049.2(ASPA): c.*246G> A single nucleotide variant Uncertain significance rs769255741 GRCh37 Chromosome 17, 3402628: 3402628

Expression for Canavan Disease

Search GEO for disease gene expression data for Canavan Disease.

Pathways for Canavan Disease

Pathways related to Canavan Disease according to KEGG:

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# Name Kegg Source Accession
1 Alanine, aspartate and glutamate metabolism hsa00250

GO Terms for Canavan Disease

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

# 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:

# Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.33 ALDH5A1 ASPA FOLH1
2 cellular amino acid biosynthetic process GO:0008652 9.02 ASPA FOLH1 GLUD1 GPT NAT8L
3 glutamine metabolic process GO:0006541 8.96 ALDH5A1 GLUD1

Sources for Canavan Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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