CAND
MCID: CNV004
MIFTS: 56

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 57 12 75 24 53 25 54 59 74 37 13 55 44 15 72
Aspartoacylase Deficiency 57 24 53 25 59 74
Aminoacylase 2 Deficiency 57 53 25 59 74 72
Spongy Degeneration of Central Nervous System 57 12 74 29 6
Aspa Deficiency 57 24 53 25 74
Acy2 Deficiency 57 53 25 59 74
Canavan-Van Bogaert-Bertrand Disease 57 12 53 74
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 72
Infantile Canavan Disease 59
Canavan Disease, Juvenile 72
Canavan Disease, Neonatal 72
Juvenile Canavan Disease 59
Neonatal Canavan Disease 59
Severe Canavan Disease 59
Mild Canavan Disease 59
Canavan's Disease 25
Disease, Canavan 40
Cand 74

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:



External Ids:

Disease Ontology 12 DOID:3613
OMIM 57 271900
KEGG 37 H00074
MeSH 44 D017825
NCIt 50 C84611
SNOMED-CT 68 80544005
MESH via Orphanet 45 D017825
ICD10 via Orphanet 34 E75.2
UMLS via Orphanet 73 C0206307 C0751664 C0751666 more
UMLS 72 C0206307 C0751664 C0751666 more

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 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. Affiliated tissues include brain, testes and skin, and related phenotypes are macrocephaly and intellectual disability

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. Neonatal/infantile Canavan disease is the most common and most severe form of the condition. Affected infants appear normal for the first few months of life, but by age 3 to 5 months, problems with development become noticeable. These infants usually do not develop motor skills such as turning over, controlling head movement, and sitting without support. Other common features of this condition include weak muscle tone (hypotonia), an unusually large head size (macrocephaly), and irritability. Feeding and swallowing difficulties, seizures, and sleep disturbances may also develop. The mild/juvenile form of Canavan disease is less common. Affected individuals have mildly delayed development of speech and motor skills starting in childhood. These delays may be so mild and nonspecific that they are never recognized as being caused by Canavan disease. The life expectancy for people with Canavan disease varies. Most people with the neonatal/infantile form live only into childhood, although some survive into adolescence or beyond. People with the mild/juvenile form do not appear to have a shortened lifespan.

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.

KEGG : 37
Canavan disease (CD) is an autosomal recessive neurodegenerative disorder associated with mutations of the gene encoding aspartoacylase (ASPA). In humans, the CD syndrome is marked by early onset, hydrocephalus, macroencephaly, psychomotor retardation, and spongiform myelin sheath vacuolization with progressive leukodystrophy. The disease is caused by aspartoacylase deficiency resulting in accumulation of N-acetylaspartic acid (NAA) in the brain. The increased levels of NAA in CD lead to swelling or sponginess of the brain. Two mutations account for about 98% of the alleles of Ashkenazi Jewish patients, in which population the disease is highly prevalent(E285A and Y231X in ASPA protein). Mutations in the ASPA gene in non-Jewish patients are different and more diverse.

UniProtKB/Swiss-Prot : 74 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 : 75 Canavan disease is an autosomal recessive degenerative disorder that causes progressive damage to nerve... more...

More information 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 top 50) (show all 71)
# Related Disease Score Top Affiliating Genes
1 leukodystrophy 11.8
2 candidiasis 10.7
3 hypotonia 10.6
4 autosomal recessive disease 10.5
5 megalencephaly 10.4
6 macrocephaly/megalencephaly syndrome, autosomal recessive 10.4
7 tremor 10.3
8 spasticity 10.3
9 brain edema 10.2
10 aspergillosis 10.2
11 respiratory failure 10.2
12 chlamydia 10.2
13 cryptococcosis 10.2
14 neutropenia 10.2
15 endophthalmitis 10.2
16 aceruloplasminemia 10.2
17 homocystinuria 10.2
18 fatty liver disease 10.2
19 retinitis pigmentosa 10.1
20 yemenite deaf-blind hypopigmentation syndrome 10.1
21 neuroretinitis 10.1
22 retinitis 10.1
23 hypertonia 10.1
24 immune deficiency disease 10.1
25 neuraminidase deficiency 10.1
26 glycoproteinosis 10.1
27 encephalitis 10.1
28 strabismus 10.1
29 alexander disease 10.1
30 adrenoleukodystrophy 10.1
31 mechanical strabismus 10.1
32 adrenomyeloneuropathy 10.1
33 alzheimer disease 10.0
34 huntington disease 10.0
35 macroglossia 10.0
36 multiple acyl-coa dehydrogenase deficiency 10.0
37 l-2-hydroxyglutaric aciduria 10.0
38 3-methylglutaconic aciduria, type iii 10.0
39 pelizaeus-merzbacher disease 10.0
40 ataxia and polyneuropathy, adult-onset 10.0
41 stroke, ischemic 10.0
42 rhabdoid tumor predisposition syndrome 1 10.0
43 major affective disorder 8 10.0
44 major affective disorder 9 10.0
45 hydrops, lactic acidosis, and sideroblastic anemia 10.0
46 sleep apnea 10.0
47 organic acidemia 10.0
48 cholelithiasis 10.0
49 hydrocephalus 10.0
50 spastic diplegia 10.0

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:

59 32 (show all 38)
# 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 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001263
10 delayed speech and language development 59 32 hallmark (90%) Very frequent (99-80%) HP:0000750
11 optic atrophy 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000648
12 abnormality of visual evoked potentials 59 32 frequent (33%) Frequent (79-30%),Very frequent (99-80%) HP:0000649
13 reduced consciousness/confusion 59 32 hallmark (90%) Very frequent (99-80%) HP:0004372
14 feeding difficulties in infancy 59 32 hallmark (90%) Very frequent (99-80%) HP:0008872
15 cognitive impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0100543
16 coma 59 32 hallmark (90%) Very frequent (99-80%) HP:0001259
17 lethargy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001254
18 mild global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0011342
19 hearing impairment 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000365
20 blindness 59 32 frequent (33%) Frequent (79-30%) HP:0000618
21 hypertonia 59 32 frequent (33%) Frequent (79-30%) HP:0001276
22 gastroesophageal reflux 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002020
23 visual loss 59 32 frequent (33%) Frequent (79-30%) HP:0000572
24 developmental regression 59 32 occasional (7.5%) Occasional (29-5%) HP:0002376
25 abnormality of retinal pigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0007703
26 flexion contracture 59 32 occasional (7.5%) Occasional (29-5%) HP:0001371
27 iris hypopigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0007730
28 brain atrophy 32 HP:0012444
29 nystagmus 32 HP:0000639
30 visual impairment 59 Frequent (79-30%)
31 generalized-onset seizure 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
36 elevated urinary n-acetylaspartic acid level 32 HP:0032272
37 increased circulating n-acetylaspartic acid concentration 32 HP:0032273
38 increased csf n-acetylaspartic acid concentration 32 HP:0032274

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
brain atrophy
opisthotonus
generalized seizures
initial hypotonia, followed by spasticity
loss of very early milestones
more
Head And Neck Head:
increased head circumference
delayed closure of anterior fontanelle

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 Ears:
deafness

Clinical features from OMIM:

271900

UMLS symptoms related to Canavan Disease:


opisthotonus

MGI Mouse Phenotypes related to Canavan Disease:

46
# 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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase III Trial of ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transplantation (UCBT) in Patients With Inborn Errors of Metabolism Terminated NCT00654433 Phase 3
2 Evaluation of the Tolerance and Efficiency of a Combined Oral Therapy With Lithium and GTA in Patients With Canavan Disease Withdrawn NCT00657748 Phase 2 Lithium Gluconate (drug) Glyceryl Triacetate GTA (drug)
3 Phase 1 Treatment With GTA in Two Infant With 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 Assessing the Outcomes of Web-based Pre-test Educational Module for Carrier Genetic Screening in Individuals of Ashkenazi Jewish Descent Completed NCT01999257
6 A Natural History Study of Canavan Disease: MGH Site 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, Cortex, Spinal Cord, Smooth Muscle

Publications for Canavan Disease

Articles related to Canavan Disease:

(show top 50) (show all 327)
# Title Authors PMID Year
1
Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease. 9 38 4 8 71
12638939 2002
2
The molecular basis of canavan (aspartoacylase deficiency) disease in European non-Jewish patients. 9 38 4 8 71
7668285 1995
3
Canavan disease: mutations among Jewish and non-Jewish patients. 9 38 4 8 71
8023850 1994
4
Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease. 9 38 4 8 71
8252036 1993
5
Homozygosity for mutation G212A of the gene for aspartoacylase is associated with atypical form of Canavan's disease. 9 8 71
18070137 2008
6
Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population. 38 8 71
10909858 2000
7
Canavan disease: genomic organization and localization of human ASPA to 17p13-ter and conservation of the ASPA gene during evolution. 9 38 4 71
8088831 1994
8
ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. 38 4 71
19888064 2009
9
Mild-onset presentation of Canavan's disease associated with novel G212A point mutation in aspartoacylase gene. 8 71
16437572 2006
10
Identification and expression of eight novel mutations among non-Jewish patients with Canavan disease. 9 38 71
8659549 1996
11
The frequency of the C854 mutation in the aspartoacylase gene in Ashkenazi Jews in Israel. 9 38 71
8037206 1994
12
Aspartoacylase deficiency and Canavan disease in Saudi Arabia. 9 38 8
2309767 1990
13
Genome-wide gene expression profiling and mutation analysis of Saudi patients with Canavan disease. 9 38 4
18978679 2008
14
Structure of aspartoacylase, the brain enzyme impaired in Canavan disease. 9 38 4
17194761 2007
15
Rapid detection of three large novel deletions of the aspartoacylase gene in non-Jewish patients with Canavan disease. 9 38 4
16854607 2006
16
Atypical MRI findings in Canavan disease: a patient with a mild course. 9 38 4
16217711 2005
17
Possible genotype-phenotype correlations in children with mild clinical course of Canavan disease. 9 38 4
16138249 2005
18
Canavan disease: carrier-frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assay. 38 8
14699612 2004
19
Two novel aspartoacylase gene (ASPA) missense mutations specific to Norwegian and Swedish patients with Canavan disease. 9 38 4
12205125 2002
20
Spongy degeneration of the brain, Canavan disease: biochemical and molecular findings. 9 38 4
10704428 2000
21
Novel missense mutation (Y231C) in a turkish patient with canavan disease. 38 71
10564886 1999
22
Canavan Disease 38 71
20301412 1999
23
Protracted course of N-acetylaspartic aciduria in two non-Jewish siblings: identical clinical and magnetic resonance imaging findings. 38 8
10372908 1999
24
Novel (cys152 > arg) missense mutation in an Arab patient with Canavan disease. 38 71
7599639 1995
25
Magnetic resonance imaging in juvenile Canavan disease. 38 8
8223809 1993
26
SSIEM Award. Aspartoacylase deficiency: the enzyme defect in Canavan disease. 38 8
2512436 1989
27
Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease. 38 8
3354621 1988
28
N-acetylaspartic aciduria due to aspartoacylase deficiency--a new aetiology of childhood leukodystrophy. 38 8
3116332 1987
29
An atypical case of Canavan disease with stroke-like presentation. 38 4
25497124 2015
30
Chromosomal 17p13.3 microdeletion unmasking recessive Canavan disease mutation. 38 4
22019069 2011
31
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. 38 4
19932039 2010
32
Carrier frequency of autosomal-recessive disorders in the Ashkenazi Jewish population: should the rationale for mutation choice for screening be reevaluated? 38 4
18264947 2008
33
Carrier screening in individuals of Ashkenazi Jewish descent. 71
18197057 2008
34
Canavan's leukodystrophy is associated with defects in cochlear neurodevelopment and deafness. 8
12771274 2003
35
The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients. 38 4
10407784 1999
36
A benign polymorphism in the aspartoacylase gene may cause misinterpretation of Canavan gene testing. 71
9887384 1998
37
Molecular basis of Canavan disease. 38 4
10724099 1998
38
Prevalence of Canavan disease heterozygotes in the New York metropolitan Ashkenazi Jewish population. 38 4
7485179 1995
39
Canavan disease: from spongy degeneration to molecular analysis. 38 4
7562269 1995
40
Canavan disease: biochemical and molecular studies. 38 4
8412017 1993
41
N-acetylaspartic aciduria: report of three new cases in children with a neurological syndrome associating macrocephaly and leukodystrophy. 8
3148075 1988
42
N-acetylaspartic aciduria in a child with a progressive cerebral atrophy. 8
3769199 1986
43
Spongy degeneration of the brain in Israel: a retrospective study. 8
6831759 1983
44
[Spongious cerebral dystrophy at an infant age (Canavan-Bogaert-Bertrand types) in three siblings of a non-Jewish family in upper Franconia (author's transl)]. 8
568685 1978
45
Cerebral spongy degeneration of infancy. A biochemical and ultrastructural study of affected twins. 8
4333033 1972
46
Familial spongy degeneration of the brain. 8
5417637 1970
47
[Congenital familial spongy idiocy (van Bogaert-Bertrand syndrome) in a non-Jewish family (study of a 2d Italian family)]. 8
5369099 1969
48
SPONGY DEGENERATION OF THE CENTRAL NERVOUS SYSTEM: CASE OF HOMOCYSTINURIA. 8
14254905 1965
49
SPONGY DEGENERATION OF THE NERVOUS SYSTEM (CANAVAN'S DISEASE). 8
14261965 1965
50
SPONGY DEGENERATION OF THE CENTRAL NERVOUS SYSTEM IN INFANCY. 8
14239091 1964

Variations for Canavan Disease

ClinVar genetic disease variations for Canavan Disease:

6 (show top 50) (show all 81)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ASPA ASPA, 1-BP DEL, 32T deletion Pathogenic
2 ASPA NM_000049.3(ASPA): c.854A> C (p.Glu285Ala) single nucleotide variant Pathogenic rs28940279 17:3402294-3402294 17:3499000-3499000
3 ASPA NM_000049.3(ASPA): c.454T> C (p.Cys152Arg) single nucleotide variant Pathogenic rs104894548 17:3386814-3386814 17:3483520-3483520
4 ASPA NM_000049.3(ASPA): c.914C> A (p.Ala305Glu) single nucleotide variant Pathogenic rs28940574 17:3402354-3402354 17:3499060-3499060
5 ASPA NM_000049.3(ASPA): c.654C> A (p.Cys218Ter) single nucleotide variant Pathogenic rs104894549 17:3397663-3397663 17:3494369-3494369
6 ASPA NM_000049.3(ASPA): c.693C> A (p.Tyr231Ter) single nucleotide variant Pathogenic rs12948217 17:3397702-3397702 17:3494408-3494408
7 ASPA ASPA, 4-BP DEL, 876AGAA deletion Pathogenic
8 ASPA NM_000049.3(ASPA): c.692A> G (p.Tyr231Cys) single nucleotide variant Pathogenic rs104894550 17:3397701-3397701 17:3494407-3494407
9 ASPA ASPA, EX4DEL deletion Pathogenic
10 ASPA NM_000049.3(ASPA): c.71A> G (p.Glu24Gly) single nucleotide variant Pathogenic rs104894551 17:3379524-3379524 17:3476230-3476230
11 covers 12 genes, none of which curated to show dosage sensitivity NC_000017.10: g.(?_3392529)_(3632849_?)del deletion Pathogenic 17:3392529-3632849 17:3489235-3729555
12 ASPA NM_000049.3(ASPA): c.147dup (p.Pro50fs) duplication Pathogenic 17:3379600-3379600 17:3476306-3476306
13 ASPA NM_000049.3(ASPA): c.550C> T (p.Gln184Ter) single nucleotide variant Pathogenic 17:3392552-3392552 17:3489258-3489258
14 ASPA NC_000017.10: g.(?_3392519)_(3402392_?)del deletion Pathogenic 17:3392519-3402392 17:3489225-3499098
15 ASPA NM_000049.3(ASPA): c.541C> A (p.Pro181Thr) single nucleotide variant Pathogenic/Likely pathogenic rs786204572 17:3392543-3392543 17:3489249-3489249
16 ASPA NM_000049.3(ASPA): c.859G> A (p.Ala287Thr) single nucleotide variant Pathogenic/Likely pathogenic rs774323189 17:3402299-3402299 17:3499005-3499005
17 ASPA NM_000049.3(ASPA): c.212G> A (p.Arg71His) single nucleotide variant Pathogenic/Likely pathogenic rs104894553 17:3379665-3379665 17:3476371-3476371
18 ASPA ; SPATA22 NM_000049.3(ASPA): c.79G> A (p.Gly27Arg) single nucleotide variant Pathogenic/Likely pathogenic rs766328537 17:3379532-3379532 17:3476238-3476238
19 ASPA NM_000049.3(ASPA): c.244dup (p.Met82fs) duplication Pathogenic/Likely pathogenic rs756198538 17:3384904-3384904 17:3481610-3481610
20 ASPA NM_000049.3(ASPA): c.634+1G> T single nucleotide variant Pathogenic/Likely pathogenic rs753871454 17:3392637-3392637 17:3489343-3489343
21 ASPA NM_000049.3(ASPA): c.796dup (p.Asp266fs) duplication Likely pathogenic rs1555541291 17:3402235-3402235 17:3498942-3498942
22 ASPA NM_000049.3(ASPA): c.527-2A> C single nucleotide variant Likely pathogenic rs778385612 17:3392527-3392527 17:3489233-3489233
23 ASPA NM_000049.3(ASPA): c.831del (p.Val278fs) deletion Likely pathogenic rs1555541304 17:3402269-3402270 17:3498977-3498977
24 ASPA NM_000049.3(ASPA): c.503G> A (p.Arg168His) single nucleotide variant Likely pathogenic rs770706390 17:3386863-3386863 17:3483569-3483569
25 ASPA NM_000049.3(ASPA): c.548C> A (p.Pro183His) single nucleotide variant Likely pathogenic rs1555539857 17:3392550-3392550 17:3489256-3489256
26 ASPA NM_000049.3(ASPA): c.626del (p.Phe209fs) deletion Likely pathogenic rs1555539897 17:3392625-3392626 17:3489334-3489334
27 ASPA NM_000049.3(ASPA): c.47T> C (p.Ile16Thr) single nucleotide variant Likely pathogenic rs769653717 17:3379500-3379500 17:3476206-3476206
28 ASPA NM_000049.3(ASPA): c.745-1G> A single nucleotide variant Likely pathogenic rs1555541278 17:3402184-3402184 17:3498890-3498890
29 ASPA NM_000049.3(ASPA): c.514_515dup (p.Tyr173fs) duplication Likely pathogenic rs1555539105 17:3386873-3386873 17:3483580-3483581
30 ASPA NM_000049.3(ASPA): c.679_682del (p.Glu227fs) deletion Likely pathogenic rs1555540674 17:3397686-3397690 17:3494394-3494397
31 ASPA NM_000049.3(ASPA): c.245del (p.Met82fs) deletion Likely pathogenic rs1057516962 17:3384905-3384905 17:3481611-3481611
32 ASPA NM_000049.3(ASPA): c.640G> T (p.Glu214Ter) single nucleotide variant Likely pathogenic rs1057516416 17:3397649-3397649 17:3494355-3494355
33 ASPA NM_000049.3(ASPA): c.650_651del (p.Pro217fs) deletion Likely pathogenic rs1057516498 17:3397659-3397660 17:3494365-3494366
34 ASPA NM_000049.3(ASPA): c.697del (p.Arg233fs) deletion Likely pathogenic rs1057516315 17:3397706-3397706 17:3494412-3494412
35 ASPA NM_000049.3(ASPA): c.731A> G (p.His244Arg) single nucleotide variant Likely pathogenic rs1057516995 17:3397740-3397740 17:3494446-3494446
36 ASPA NM_000049.3(ASPA): c.745-2A> G single nucleotide variant Likely pathogenic rs1057517066 17:3402183-3402183 17:3498889-3498889
37 ASPA NM_000049.3(ASPA): c.827_828del (p.Cys276fs) deletion Likely pathogenic rs1057517085 17:3402267-3402268 17:3498973-3498974
38 ASPA NM_000049.3(ASPA): c.867C> A (p.Tyr289Ter) single nucleotide variant Likely pathogenic rs375736464 17:3402307-3402307 17:3499013-3499013
39 ASPA NM_000049.3(ASPA): c.872_875AGAA[1] (p.Glu293fs) short repeat Likely pathogenic rs766720790 17:3402316-3402319 17:3499022-3499025
40 ASPA NM_000049.3(ASPA): c.922del (p.Ile308fs) deletion Likely pathogenic rs1057516309 17:3402362-3402362 17:3499068-3499068
41 ASPA NM_000049.3(ASPA): c.924del (p.Arg309fs) deletion Likely pathogenic rs1057517260 17:3402364-3402364 17:3499070-3499070
42 ASPA NM_000049.3(ASPA): c.2T> C (p.Met1Thr) single nucleotide variant Likely pathogenic rs1057516879 17:3379455-3379455 17:3476161-3476161
43 ASPA NM_000049.3(ASPA): c.237-1G> T single nucleotide variant Likely pathogenic rs1057517291 17:3384896-3384896 17:3481602-3481602
44 ASPA NM_000049.3(ASPA): c.604G> C (p.Ala202Pro) single nucleotide variant Likely pathogenic rs147763700 17:3392606-3392606 17:3489312-3489312
45 ASPA NM_000049.3(ASPA): c.340G> T (p.Asp114Tyr) single nucleotide variant Likely pathogenic rs1446467099 17:3385000-3385000 17:3481706-3481706
46 ASPA NM_000049.3(ASPA): c.32del (p.Ile11fs) deletion Likely pathogenic rs767666474 17:3379485-3379485 17:3476191-3476191
47 ASPA NM_000049.3(ASPA): c.236+1G> A single nucleotide variant Likely pathogenic rs1555538157 17:3379690-3379690 17:3476396-3476396
48 ASPA NM_000049.3(ASPA): c.237-1G> A single nucleotide variant Likely pathogenic rs1057517291 17:3384896-3384896 17:3481602-3481602
49 ASPA NM_000049.3(ASPA): c.382del (p.Glu129fs) deletion Likely pathogenic rs1555538825 17:3385041-3385042 17:3481748-3481748
50 ASPA NM_000049.3(ASPA): c.746A> T (p.Asp249Val) single nucleotide variant Likely pathogenic rs104894552 17:3402186-3402186 17:3498892-3498892

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

74 (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 rs155553985
25 ASPA p.Val186Phe VAR_039086
26 ASPA p.Met195Arg VAR_039087
27 ASPA p.Pro280Leu VAR_039088 rs155554131
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 rs155553814
32 ASPA p.Ala57Val VAR_078088 rs155553814
33 ASPA p.Arg63Thr VAR_078089 rs155553815
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

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:

37
# 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
13.45 NAT8L GPT GLUD1 FOLH1 ASPA ALDH5A1
2
Show member pathways
10.87 GPT GLUD1 FOLH1 ASPA
3
Show member pathways
10.67 GPT GLUD1
4 10.66 NAT8L GPT GLUD1 FOLH1 ASPA ALDH5A1
5
Show member pathways
10.27 GPT ASPA

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 NAT8L GLUD1 ALDH5A1

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 NAT8L GPT GLUD1 FOLH1 ASPA
2 glutamine metabolic process GO:0006541 8.96 GLUD1 ALDH5A1

Sources for Canavan Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....