CAND
MCID: CNV004
MIFTS: 53

Canavan Disease (CAND)

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

Aliases & Classifications for Canavan Disease

MalaCards integrated aliases for Canavan Disease:

Name: Canavan Disease 58 12 77 25 54 26 55 60 76 38 13 56 45 15 74
Aspartoacylase Deficiency 58 25 54 26 60 76
Aminoacylase 2 Deficiency 58 54 26 60 76 74
Spongy Degeneration of Central Nervous System 58 12 76 30 6
Aspa Deficiency 58 25 54 26 76
Acy2 Deficiency 58 54 26 60 76
Canavan-Van Bogaert-Bertrand Disease 58 12 54 76
Canavan Disease, Mild 30 6
Asp Deficiency 58 54
Spongy Degeneration of the Central Nervous System 54
Spongy Degeneration of the Brain 60
Von Bogaert-Bertrand Disease 54
Canavan Disease, Infantile 74
Infantile Canavan Disease 60
Canavan Disease, Juvenile 74
Canavan Disease, Neonatal 74
Juvenile Canavan Disease 60
Neonatal Canavan Disease 60
Severe Canavan Disease 60
Mild Canavan Disease 60
Canavan's Disease 26
Disease, Canavan 41
Aspartoacylase 13
Cand 76

Characteristics:

Orphanet epidemiological data:

60
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:

58
Inheritance:
autosomal recessive

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


HPO:

33
canavan disease:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Canavan Disease

NINDS : 55 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 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 Triacetin have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and skin, and related phenotypes are macrocephaly and intellectual disability

Genetics Home Reference : 26 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 : 54 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.  

UniProtKB/Swiss-Prot : 76 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 : 77 Canavan disease is an autosomal recessive degenerative disorder that causes progressive damage to nerve... 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 17)
# Related Disease Score Top Affiliating Genes
1 leukodystrophy 11.6
2 candidiasis 10.3
3 tremor 10.3
4 chromophobe renal cell carcinoma 10.2
5 homocystinuria 10.2
6 encephalitis 10.1
7 diabetic neuropathy 10.1
8 neuropathy 10.1
9 l-2-hydroxyglutaric aciduria 10.0
10 cholelithiasis 10.0
11 atypical teratoid rhabdoid tumor 10.0
12 rhabdoid cancer 10.0
13 microcephaly 10.0
14 hypotonia 10.0
15 megalencephaly 10.0
16 bardet-biedl syndrome 2 9.9 ASPA BRCA1
17 reproductive system disease 9.6 BRCA1 FOLH1

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



Diseases related to Canavan Disease

Symptoms & Phenotypes for Canavan Disease

Human phenotypes related to Canavan Disease:

60 33 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 60 33 frequent (33%) Frequent (79-30%),Very frequent (99-80%) HP:0000256
2 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
3 seizures 60 33 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%) HP:0001250
4 muscular hypotonia 60 33 frequent (33%) Frequent (79-30%),Very frequent (99-80%) HP:0001252
5 spasticity 60 33 hallmark (90%) Very frequent (99-80%) HP:0001257
6 dysphagia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002015
7 eeg abnormality 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002353
8 sleep disturbance 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002360
9 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001263
10 delayed speech and language development 60 33 hallmark (90%) Very frequent (99-80%) HP:0000750
11 optic atrophy 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000648
12 abnormality of visual evoked potentials 60 33 frequent (33%) Frequent (79-30%),Very frequent (99-80%) HP:0000649
13 reduced consciousness/confusion 60 33 hallmark (90%) Very frequent (99-80%) HP:0004372
14 feeding difficulties in infancy 60 33 hallmark (90%) Very frequent (99-80%) HP:0008872
15 cognitive impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0100543
16 coma 60 33 hallmark (90%) Very frequent (99-80%) HP:0001259
17 lethargy 60 33 hallmark (90%) Very frequent (99-80%) HP:0001254
18 mild global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0011342
19 hearing impairment 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000365
20 blindness 60 33 frequent (33%) Frequent (79-30%) HP:0000618
21 hypertonia 60 33 frequent (33%) Frequent (79-30%) HP:0001276
22 gastroesophageal reflux 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002020
23 visual loss 60 33 frequent (33%) Frequent (79-30%) HP:0000572
24 developmental regression 60 33 occasional (7.5%) Occasional (29-5%) HP:0002376
25 abnormality of retinal pigmentation 60 33 occasional (7.5%) Occasional (29-5%) HP:0007703
26 flexion contracture 60 33 occasional (7.5%) Occasional (29-5%) HP:0001371
27 iris hypopigmentation 60 33 occasional (7.5%) Occasional (29-5%) HP:0007730
28 brain atrophy 33 HP:0012444
29 nystagmus 33 HP:0000639
30 visual impairment 60 Frequent (79-30%)
31 opisthotonus 33 HP:0002179
32 delayed closure of the anterior fontanelle 33 HP:0001476
33 cns demyelination 33 HP:0007305
34 generalized-onset seizure 33 HP:0002197
35 aplasia/hypoplasia involving the central nervous system 33 HP:0002977

Symptoms via clinical synopsis from OMIM:

58
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

UMLS symptoms related to Canavan Disease:


opisthotonus

MGI Mouse Phenotypes related to Canavan Disease:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.1 ALDH5A1 ASPA BRCA1 GLUD1 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
Triacetin Phase 2,Not Applicable 102-76-1 5541
3 Antifungal Agents Phase 2,Not Applicable
4 Anti-Infective Agents Phase 2,Not Applicable

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 30 ASPA
2 Canavan Disease, Mild 30

Anatomical Context for Canavan Disease

MalaCards organs/tissues related to Canavan Disease:

42
Brain, Testes, Skin

Publications for Canavan Disease

Articles related to Canavan Disease:

(show top 50) (show all 190)
# Title Authors Year
1
Next generation sequencing of RNA reveals novel targets of resveratrol with possible implications for Canavan disease. ( 30446350 )
2019
2
Uncoupling N-acetylaspartate from brain pathology: implications for Canavan disease gene therapy. ( 29116375 )
2018
3
White matter disease: Targeted aspartoacylase gene therapy reverts Canavan disease. ( 29170500 )
2018
4
Brain Nat8l Knockdown Suppresses Spongiform Leukodystrophy in an Aspartoacylase-Deficient Canavan Disease Mouse Model. ( 29456021 )
2018
5
Juvenile Canavan Disease: A Leukodystrophy without White Matter Changes. ( 30304741 )
2018
6
Pathophysiology and Treatment of Canavan Disease. ( 30535831 )
2018
7
Increasing N-acetylaspartate in the Brain during Postnatal Myelination Does Not Cause the CNS Pathologies of Canavan Disease. ( 28626388 )
2017
8
Canavan disease with typical brain MRI and MRS findings. ( 28879937 )
2017
9
Two patients with Canavan disease and structural modeling of a novel mutation. ( 27531131 )
2017
10
Design and optimization of aspartate N-acetyltransferase inhibitors for the potential treatment of Canavan disease. ( 28007430 )
2017
11
Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity. ( 28101991 )
2017
12
Redirecting N-acetylaspartate metabolism in the central nervous system normalizes myelination and rescues Canavan disease. ( 28194442 )
2017
13
Docking, molecular dynamics and free energy studies on aspartoacylase mutations involved in Canavan disease. ( 28349879 )
2017
14
Rescuing Canavan disease: engineering the wrong cell at the right time. ( 28374337 )
2017
15
Atypical clinical and radiological course of a patient with Canavan disease. ( 26586007 )
2016
16
Novel mutation in an Egyptian patient with infantile Canavan disease. ( 26613958 )
2016
17
Spongy White Matter: A Novel Neuroimaging Finding in Canavan Disease. ( 26791240 )
2016
18
A case of Canavan disease with microcephaly. ( 26992473 )
2016
19
Non-genetic therapeutic approaches to Canavan disease. ( 27288788 )
2016
20
Cytotoxic edema and diffusion restriction as an early pathoradiologic marker in canavan disease: case report and review of the literature. ( 27927234 )
2016
21
Canavan disease - unusual imaging features in a child with mild clinical presentation. ( 25107638 )
2015
22
An atypical case of Canavan disease with stroke-like presentation. ( 25497124 )
2015
23
Leukodystrophy with multiple beaded periventricular cysts: unusual cranial MRI results in Canavan disease. ( 25647544 )
2015
24
Canavan disease: an Arab scenario. ( 25668701 )
2015
25
Ablating N-acetylaspartate prevents leukodystrophy in a Canavan disease model. ( 25712859 )
2015
26
N-Acetylaspartate Synthase Deficiency Corrects the Myelin Phenotype in a Canavan Disease Mouse Model But Does Not Affect Survival Time. ( 26511242 )
2015
27
A Novel Mutation in Aspartoacylase Gene; Canavan Disease. ( 26664442 )
2015
28
Astroglial redistribution of aquaporin 4 during spongy degeneration in a Canavan disease mouse model. ( 24272958 )
2014
29
Dietary triheptanoin rescues oligodendrocyte loss, dysmyelination and motor function in the nur7 mouse model of Canavan disease. ( 24288037 )
2014
30
Loss of central auditory processing in a mouse model of Canavan disease. ( 24826990 )
2014
31
Canavan disease: clinical features and recent advances in research. ( 24977939 )
2014
32
Aspartoacylase catalytic deficiency as the cause of Canavan disease: a structural perspective. ( 25003821 )
2014
33
Brain ultrasound in Canavan disease. ( 25177395 )
2014
34
Radiological clue to diagnosis of Canavan disease. ( 22660905 )
2013
35
A thematic review of scientific and family interests in Canavan Disease: where are the developmentalists? ( 22676184 )
2013
36
Relationship between enzyme properties and disease progression in Canavan disease. ( 22850825 )
2013
37
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
38
Canavan disease, a rare early-onset human spongiform leukodystrophy: insights into its genesis and possible clinical interventions. ( 23151389 )
2013
39
New T530C mutation in the aspartoacylase gene caused Canavan disease with no correlation between severity and N-acetylaspartate excretion. ( 24036223 )
2013
40
A missense mutation (p.G274R) in gene ASPA causes Canavan disease in a Pakistani family. ( 22219087 )
2012
41
A novel aspartoacylase (ASPA) gene mutation in Canavan disease. ( 22468686 )
2012
42
Lithium citrate as treatment of Canavan disease. ( 22592512 )
2012
43
A mutation of aspartoacylase gene in a Turkish patient with Canavan disease. ( 22611636 )
2012
44
Expression of aspartoacylase (ASPA) and Canavan disease. ( 22750302 )
2012
45
Long-term follow-up after gene therapy for canavan disease. ( 23253610 )
2012
46
Modification of aspartoacylase for potential use in enzyme replacement therapy for the treatment of Canavan disease. ( 21095151 )
2011
47
Teaching NeuroImages: honeycomb appearance of the brain in a patient with Canavan disease. ( 21444896 )
2011
48
A safety trial of high dose glyceryl triacetate for Canavan disease. ( 21474353 )
2011
49
Aspartoacylase-lacZ knockin mice: an engineered model of Canavan disease. ( 21625469 )
2011
50
Canavan disease: a novel mutation. ( 21907889 )
2011

Variations for Canavan Disease

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

76 (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 rs144646709
14 ASPA p.Cys152Trp VAR_016785
15 ASPA p.Tyr231Cys VAR_016786 rs104894550
16 ASPA p.His244Arg VAR_016787 rs105751699
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 rs105752111
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 rs101455154
40 ASPA p.Asp204His VAR_078096
41 ASPA p.Gln248Arg VAR_078097
42 ASPA p.Ala286Asp VAR_078098 rs141468439

ClinVar genetic disease variations for Canavan Disease:

6 (show top 50) (show all 149)
# 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_000049.2(ASPA): c.454T> C (p.Cys152Arg) single nucleotide variant Pathogenic rs104894548 GRCh37 Chromosome 17, 3386814: 3386814
4 ASPA NM_000049.2(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_000049.2(ASPA): c.32delT (p.Ile11Asnfs) deletion Likely pathogenic rs767666474 GRCh37 Chromosome 17, 3379485: 3379485
23 ASPA NM_000049.2(ASPA): c.32delT (p.Ile11Asnfs) deletion Likely pathogenic rs767666474 GRCh38 Chromosome 17, 3476191: 3476191
24 ASPA; SPATA22 NM_000049.2(ASPA): c.79G> A (p.Gly27Arg) single nucleotide variant Pathogenic/Likely pathogenic rs766328537 GRCh37 Chromosome 17, 3379532: 3379532
25 ASPA; SPATA22 NM_000049.2(ASPA): c.79G> A (p.Gly27Arg) single nucleotide variant Pathogenic/Likely pathogenic rs766328537 GRCh38 Chromosome 17, 3476238: 3476238
26 ASPA NM_000049.2(ASPA): c.237-2A> T single nucleotide variant Conflicting interpretations of pathogenicity rs780936696 GRCh37 Chromosome 17, 3384895: 3384895
27 ASPA NM_000049.2(ASPA): c.237-2A> T single nucleotide variant Conflicting interpretations of pathogenicity rs780936696 GRCh38 Chromosome 17, 3481601: 3481601
28 ASPA NM_000049.2(ASPA): c.244_245delAT (p.Met82Valfs) deletion Likely pathogenic rs786204620 GRCh37 Chromosome 17, 3384904: 3384905
29 ASPA NM_000049.2(ASPA): c.244_245delAT (p.Met82Valfs) deletion Likely pathogenic rs786204620 GRCh38 Chromosome 17, 3481610: 3481611
30 ASPA NM_000049.2(ASPA): c.541C> A (p.Pro181Thr) single nucleotide variant Likely pathogenic rs786204572 GRCh37 Chromosome 17, 3392543: 3392543
31 ASPA NM_000049.2(ASPA): c.541C> A (p.Pro181Thr) single nucleotide variant Likely pathogenic rs786204572 GRCh38 Chromosome 17, 3489249: 3489249
32 ASPA NM_000049.2(ASPA): c.820G> A (p.Gly274Arg) single nucleotide variant Likely pathogenic rs761064915 GRCh37 Chromosome 17, 3402260: 3402260
33 ASPA NM_000049.2(ASPA): c.820G> A (p.Gly274Arg) single nucleotide variant Likely pathogenic rs761064915 GRCh38 Chromosome 17, 3498966: 3498966
34 ASPA NM_000049.2(ASPA): c.859G> A (p.Ala287Thr) single nucleotide variant Pathogenic/Likely pathogenic rs774323189 GRCh37 Chromosome 17, 3402299: 3402299
35 ASPA NM_000049.2(ASPA): c.859G> A (p.Ala287Thr) single nucleotide variant Pathogenic/Likely pathogenic rs774323189 GRCh38 Chromosome 17, 3499005: 3499005
36 ASPA NM_000049.2(ASPA): c.693C> T (p.Tyr231=) single nucleotide variant Benign/Likely benign rs12948217 GRCh37 Chromosome 17, 3397702: 3397702
37 ASPA NM_000049.2(ASPA): c.693C> T (p.Tyr231=) single nucleotide variant Benign/Likely benign rs12948217 GRCh38 Chromosome 17, 3494408: 3494408
38 ASPA NM_000049.2(ASPA): c.831C> T (p.Thr277=) single nucleotide variant Benign rs78677072 GRCh37 Chromosome 17, 3402271: 3402271
39 ASPA NM_000049.2(ASPA): c.831C> T (p.Thr277=) single nucleotide variant Benign rs78677072 GRCh38 Chromosome 17, 3498977: 3498977
40 ASPA NM_000049.2(ASPA): c.807G> A (p.Thr269=) single nucleotide variant Uncertain significance rs759106494 GRCh38 Chromosome 17, 3498953: 3498953
41 ASPA NM_000049.2(ASPA): c.807G> A (p.Thr269=) single nucleotide variant Uncertain significance rs759106494 GRCh37 Chromosome 17, 3402247: 3402247
42 ASPA NM_000049.2(ASPA): c.906G> A (p.Thr302=) single nucleotide variant Uncertain significance rs371394875 GRCh38 Chromosome 17, 3499052: 3499052
43 ASPA NM_000049.2(ASPA): c.906G> A (p.Thr302=) single nucleotide variant Uncertain significance rs371394875 GRCh37 Chromosome 17, 3402346: 3402346
44 ASPA NM_000049.2(ASPA): c.-152C> T single nucleotide variant Uncertain significance rs886052821 GRCh38 Chromosome 17, 3476008: 3476008
45 ASPA NM_000049.2(ASPA): c.-152C> T single nucleotide variant Uncertain significance rs886052821 GRCh37 Chromosome 17, 3379302: 3379302
46 ASPA NM_000049.2(ASPA): c.905C> T (p.Thr302Met) single nucleotide variant Uncertain significance rs763869261 GRCh38 Chromosome 17, 3499051: 3499051
47 ASPA NM_000049.2(ASPA): c.905C> T (p.Thr302Met) single nucleotide variant Uncertain significance rs763869261 GRCh37 Chromosome 17, 3402345: 3402345
48 ASPA NM_000049.2(ASPA): c.*246G> A single nucleotide variant Uncertain significance rs769255741 GRCh37 Chromosome 17, 3402628: 3402628
49 ASPA NM_000049.2(ASPA): c.*246G> A single nucleotide variant Uncertain significance rs769255741 GRCh38 Chromosome 17, 3499334: 3499334
50 ASPA NM_000049.2(ASPA): c.509T> C (p.Ile170Thr) single nucleotide variant Uncertain significance rs144321760 GRCh38 Chromosome 17, 3483575: 3483575

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:

38
# Name Kegg Source Accession
1 Alanine, aspartate and glutamate metabolism hsa00250

Pathways related to Canavan Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.44 ALDH5A1 ASPA FOLH1 GLUD1 GPT NAT8L
2
Show member pathways
10.87 ASPA FOLH1 GLUD1 GPT
3
Show member pathways
10.67 GLUD1 GPT
4 10.66 ALDH5A1 ASPA FOLH1 GLUD1 GPT NAT8L
5
Show member pathways
10.27 ASPA GPT

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 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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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