CAND
MCID: CNV004
MIFTS: 62

Canavan Disease (CAND)

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

Aliases & Classifications for Canavan Disease

MalaCards integrated aliases for Canavan Disease:

Name: Canavan Disease 57 12 74 25 20 43 53 58 73 36 13 54 44 15 71
Aspartoacylase Deficiency 57 25 20 43 58 73
Aminoacylase 2 Deficiency 57 20 43 58 73 71
Spongy Degeneration of Central Nervous System 57 12 73 29 6
Aspa Deficiency 57 25 20 43 73
Acy2 Deficiency 57 20 43 58 73
Canavan-Van Bogaert-Bertrand Disease 57 12 20 73
Canavan Disease, Mild 29 6
Asp Deficiency 57 20
Spongy Degeneration of the Central Nervous System 20
Spongy Degeneration of the Brain 58
Von Bogaert-Bertrand Disease 20
Canavan Disease, Infantile 71
Infantile Canavan Disease 58
Canavan Disease, Juvenile 71
Canavan Disease, Neonatal 71
Juvenile Canavan Disease 58
Neonatal Canavan Disease 58
Severe Canavan Disease 58
Mild Canavan Disease 58
Canavan's Disease 43
Disease, Canavan 39
Cand 73

Characteristics:

Orphanet epidemiological data:

58
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 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

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


HPO:

31
canavan disease:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Canavan Disease

NINDS : 53 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 cerebral degeneration and leukodystrophy, 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 Neuroscience. Affiliated tissues include brain, cortex and spinal cord, and related phenotypes are macrocephaly and eeg abnormality

MedlinePlus Genetics : 43 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.

GARD : 20 Canavan disease is a progressive, fatal, genetic disorder affecting the central nervous system, muscles, and eyes. Early symptoms in infancy may include increased head size, weakness, low muscle tone and loss of head control. Symptoms progress to seizures, blindness, inability to move voluntarily and difficulty eating solids or swallowing liquids. This condition is caused by changes in the ASPA gene and is inherited in an autosomal recessive pattern. Canavan disease is diagnosed based on symptoms, laboratory testing, and genetic testing. There is no specific treatment. Treatment is focused on managing symptoms.

KEGG : 36 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 : 73 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 : 74 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 77)
# Related Disease Score Top Affiliating Genes
1 cerebral degeneration 30.0 PLP1 MBP ASPA
2 leukodystrophy 11.3
3 hypotonia 10.5
4 autosomal recessive disease 10.4
5 candidiasis 10.4
6 megalencephaly 10.4
7 macrocephaly/megalencephaly syndrome, autosomal recessive 10.4
8 tremor 10.3
9 pure hereditary spastic paraplegia 10.3 PLP1 GPT
10 fraser syndrome 3 10.2 SPATA22 ASPA
11 homocystinuria 10.2
12 fatty liver disease 10.2
13 spasticity 10.2
14 allergic encephalomyelitis 10.2 PLP1 MBP
15 reye syndrome 10.2 GRIA3 GPT
16 developmental and epileptic encephalopathy 24 10.2 SPATA22 ASPA
17 retinitis 10.1
18 brain edema 10.1
19 neuroretinitis 10.1
20 retinitis pigmentosa 10.1
21 hereditary neuropathies 10.1 PLP1 MBP
22 leukoencephalopathy with vanishing white matter 10.1 PLP1 MBP ASPA
23 hypertonia 10.1
24 yemenite deaf-blind hypopigmentation syndrome 10.1
25 ataxia and polyneuropathy, adult-onset 10.1
26 3-methylglutaconic aciduria, type iii 10.1
27 metachromatic leukodystrophy 10.0 TPP1 PLP1 MBP
28 leukodystrophy, hypomyelinating, 2 10.0 PLP1 ASPA
29 glycoproteinosis 10.0
30 encephalitis 10.0
31 immune deficiency disease 10.0
32 mechanical strabismus 10.0
33 adrenomyeloneuropathy 10.0
34 adrenoleukodystrophy 10.0
35 alexander disease 10.0
36 strabismus 10.0
37 endophthalmitis 9.9
38 cryptococcosis 9.9
39 chlamydia 9.9
40 aspergillosis 9.9
41 epilepsy 9.9
42 cerebral palsy 9.9
43 atypical teratoid rhabdoid tumor 9.9
44 bipolar disorder 9.9
45 rhabdoid cancer 9.9
46 dystonia 9.9
47 retinal degeneration 9.9
48 pathologic nystagmus 9.9
49 encephalopathy 9.9
50 rare neurodegenerative disease 9.9

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:

58 31 (show top 50) (show all 66)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%),Very frequent (99-80%) HP:0000256
2 eeg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0002353
3 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001263
4 optic atrophy 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0000648
5 reduced consciousness/confusion 58 31 hallmark (90%) Very frequent (99-80%) HP:0004372
6 feeding difficulties in infancy 58 31 hallmark (90%) Very frequent (99-80%) HP:0008872
7 cognitive impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0100543
8 absent speech 58 31 hallmark (90%) Very frequent (99-80%) HP:0001344
9 motor delay 58 31 hallmark (90%) Frequent (79-30%),Very frequent (99-80%) HP:0001270
10 poor head control 58 31 hallmark (90%) Occasional (29-5%),Very frequent (99-80%) HP:0002421
11 functional motor deficit 58 31 hallmark (90%) Very frequent (99-80%) HP:0004302
12 inability to walk 58 31 hallmark (90%) Very frequent (99-80%) HP:0002540
13 visual fixation instability 58 31 hallmark (90%) Very frequent (99-80%) HP:0025405
14 elevated brain n-acetyl aspartate level by mrs 58 31 hallmark (90%) Very frequent (99-80%) HP:0025053
15 hypotonia 31 frequent (33%) HP:0001252
16 hyperreflexia 58 31 frequent (33%) Occasional (29-5%),Frequent (79-30%) HP:0001347
17 sleep disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0002360
18 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
19 joint stiffness 58 31 frequent (33%) Frequent (79-30%) HP:0001387
20 blindness 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0000618
21 abnormality of visual evoked potentials 58 31 frequent (33%) Frequent (79-30%) HP:0000649
22 hypertonia 58 31 frequent (33%) Frequent (79-30%) HP:0001276
23 gastroesophageal reflux 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002020
24 vomiting 58 31 frequent (33%) Frequent (79-30%) HP:0002013
25 specific learning disability 58 31 frequent (33%) Frequent (79-30%) HP:0001328
26 irritability 58 31 frequent (33%) Frequent (79-30%) HP:0000737
27 lethargy 58 31 frequent (33%) Frequent (79-30%) HP:0001254
28 babinski sign 58 31 frequent (33%) Occasional (29-5%),Frequent (79-30%) HP:0003487
29 weak cry 58 31 frequent (33%) Frequent (79-30%) HP:0001612
30 mild global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0011342
31 abnormal enzyme/coenzyme activity 58 31 frequent (33%) Frequent (79-30%) HP:0012379
32 poor suck 58 31 frequent (33%) Frequent (79-30%) HP:0002033
33 oral-pharyngeal dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0200136
34 poor speech 58 31 frequent (33%) Frequent (79-30%) HP:0002465
35 cerebral white matter atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0012762
36 bilateral tonic-clonic seizure 31 frequent (33%) HP:0002069
37 spasticity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001257
38 megalencephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001355
39 developmental regression 58 31 occasional (7.5%) Occasional (29-5%) HP:0002376
40 delayed speech and language development 58 31 occasional (7.5%) Occasional (29-5%) HP:0000750
41 abnormality of retinal pigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0007703
42 flexion contracture 58 31 occasional (7.5%) Occasional (29-5%) HP:0001371
43 rod-cone dystrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000510
44 abnormal basal ganglia mri signal intensity 58 31 occasional (7.5%) Occasional (29-5%) HP:0012751
45 mild microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0040196
46 nasogastric tube feeding 58 31 occasional (7.5%) Occasional (29-5%) HP:0040288
47 seizure 31 occasional (7.5%) HP:0001250
48 decerebrate rigidity 58 31 very rare (1%) Very rare (<4-1%) HP:0025013
49 gastrostomy tube feeding in infancy 58 31 very rare (1%) Very rare (<4-1%) HP:0011471
50 pseudobulbar signs 58 31 very rare (1%) Very rare (<4-1%) HP:0002200

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Eyes:
nystagmus
optic atrophy
blindness

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

Neurologic Central Nervous System:
brain atrophy
opisthotonus
generalized seizures
initial hypotonia, followed by spasticity
loss of very early milestones
more
Head And Neck Ears:
deafness

Clinical features from OMIM®:

271900 (Updated 05-Mar-2021)

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 10.13 ACSS1 ACY1 ALDH5A1 ASPA BRCA1 DDC
2 growth/size/body region MP:0005378 10.13 ACSS1 ACY3 ALDH5A1 ASPA BRCA1 DDC
3 homeostasis/metabolism MP:0005376 9.97 ACSS1 ALDH5A1 ASPA BRCA1 DDC GLUD1
4 mortality/aging MP:0010768 9.77 ACSS1 ALDH5A1 ASPA BRCA1 DDC EMC6
5 nervous system MP:0003631 9.36 ALDH5A1 ASPA BRCA1 DDC EMC6 GRIA3

Drugs & Therapeutics for Canavan Disease

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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)
2 Phase 1 Treatment With GTA in Two Infant With Canavan Disease Unknown status NCT00278707 Phase 1 GTA: Glyceryltriacetate
3 Oral Glyceryl Triacetate (GTA) in Newborns With Canavan Unknown status NCT00724802 GTA glyceryl triacetate
4 A Natural History Study of Canavan Disease: MGH Site Completed NCT02851563
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 Combination Retrospective Medical History and Prospective Observational Study of Patients With Canavan Disease for Assessment of Natural History of Canavan Disease Recruiting NCT04126005

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:

40
Brain, Cortex, Spinal Cord, Smooth Muscle, Skin, Pons

Publications for Canavan Disease

Articles related to Canavan Disease:

(show top 50) (show all 340)
# Title Authors PMID Year
1
Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease. 54 25 57 6 61
12638939 2002
2
The molecular basis of canavan (aspartoacylase deficiency) disease in European non-Jewish patients. 25 6 57 54 61
7668285 1995
3
Canavan disease: mutations among Jewish and non-Jewish patients. 54 57 25 61 6
8023850 1994
4
Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease. 61 54 57 6 25
8252036 1993
5
Homozygosity for mutation G212A of the gene for aspartoacylase is associated with atypical form of Canavan's disease. 6 54 57
18070137 2008
6
Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population. 6 57 61
10909858 2000
7
Canavan disease: genomic organization and localization of human ASPA to 17p13-ter and conservation of the ASPA gene during evolution. 54 61 6 25
8088831 1994
8
Mild-onset presentation of Canavan's disease associated with novel G212A point mutation in aspartoacylase gene. 6 57
16437572 2006
9
Canavan disease: carrier-frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assay. 20 57 61
14699612 2004
10
Identification and expression of eight novel mutations among non-Jewish patients with Canavan disease. 6 54 61
8659549 1996
11
The frequency of the C854 mutation in the aspartoacylase gene in Ashkenazi Jews in Israel. 6 54 61
8037206 1994
12
Aspartoacylase deficiency and Canavan disease in Saudi Arabia. 61 54 57
2309767 1990
13
Genome-wide gene expression profiling and mutation analysis of Saudi patients with Canavan disease. 61 54 25
18978679 2008
14
Structure of aspartoacylase, the brain enzyme impaired in Canavan disease. 54 25 61
17194761 2007
15
Rapid detection of three large novel deletions of the aspartoacylase gene in non-Jewish patients with Canavan disease. 25 61 54
16854607 2006
16
Atypical MRI findings in Canavan disease: a patient with a mild course. 61 54 25
16217711 2005
17
Possible genotype-phenotype correlations in children with mild clinical course of Canavan disease. 25 54 61
16138249 2005
18
Two novel aspartoacylase gene (ASPA) missense mutations specific to Norwegian and Swedish patients with Canavan disease. 54 25 61
12205125 2002
19
Spongy degeneration of the brain, Canavan disease: biochemical and molecular findings. 54 25 61
10704428 2000
20
Novel missense mutation (Y231C) in a turkish patient with canavan disease. 61 6
10564886 1999
21
Protracted course of N-acetylaspartic aciduria in two non-Jewish siblings: identical clinical and magnetic resonance imaging findings. 57 61
10372908 1999
22
Novel (cys152 > arg) missense mutation in an Arab patient with Canavan disease. 61 6
7599639 1995
23
Magnetic resonance imaging in juvenile Canavan disease. 61 57
8223809 1993
24
SSIEM Award. Aspartoacylase deficiency: the enzyme defect in Canavan disease. 57 61
2512436 1989
25
Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease. 57 61
3354621 1988
26
N-acetylaspartic aciduria due to aspartoacylase deficiency--a new aetiology of childhood leukodystrophy. 61 57
3116332 1987
27
Non-genetic therapeutic approaches to Canavan disease. 61 20
27288788 2016
28
An atypical case of Canavan disease with stroke-like presentation. 25 61
25497124 2015
29
Canavan disease: clinical features and recent advances in research. 61 20
24977939 2014
30
Chromosomal 17p13.3 microdeletion unmasking recessive Canavan disease mutation. 61 25
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. 25 61
19932039 2010
32
ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. 61 25
19888064 2009
33
Carrier frequency of autosomal-recessive disorders in the Ashkenazi Jewish population: should the rationale for mutation choice for screening be reevaluated? 61 25
18264947 2008
34
Canavan's leukodystrophy is associated with defects in cochlear neurodevelopment and deafness. 57
12771274 2003
35
The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients. 25 61
10407784 1999
36
A benign polymorphism in the aspartoacylase gene may cause misinterpretation of Canavan gene testing. 6
9887384 1998
37
Molecular basis of Canavan disease. 61 25
10724099 1998
38
Prevalence of Canavan disease heterozygotes in the New York metropolitan Ashkenazi Jewish population. 25 61
7485179 1995
39
Canavan disease: from spongy degeneration to molecular analysis. 25 61
7562269 1995
40
Canavan disease: biochemical and molecular studies. 61 25
8412017 1993
41
N-acetylaspartic aciduria: report of three new cases in children with a neurological syndrome associating macrocephaly and leukodystrophy. 57
3148075 1988
42
N-acetylaspartic aciduria in a child with a progressive cerebral atrophy. 57
3769199 1986
43
Spongy degeneration of the brain in Israel: a retrospective study. 57
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)]. 57
568685 1978
45
Cerebral spongy degeneration of infancy. A biochemical and ultrastructural study of affected twins. 57
4333033 1972
46
Familial spongy degeneration of the brain. 57
5417637 1970
47
[Congenital familial spongy idiocy (van Bogaert-Bertrand syndrome) in a non-Jewish family (study of a 2d Italian family)]. 57
5369099 1969
48
SPONGY DEGENERATION OF THE CENTRAL NERVOUS SYSTEM: CASE OF HOMOCYSTINURIA. 57
14254905 1965
49
SPONGY DEGENERATION OF THE NERVOUS SYSTEM (CANAVAN'S DISEASE). 57
14261965 1965
50
SPONGY DEGENERATION OF THE CENTRAL NERVOUS SYSTEM IN INFANCY. 57
14239091 1964

Variations for Canavan Disease

ClinVar genetic disease variations for Canavan Disease:

6 (show top 50) (show all 109)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ASPA NM_000049.3(ASPA):c.454T>C (p.Cys152Arg) SNV Pathogenic 2606 rs104894548 17:3386814-3386814 17:3483520-3483520
2 ASPA NM_000049.4(ASPA):c.914C>A (p.Ala305Glu) SNV Pathogenic 2607 rs28940574 17:3402354-3402354 17:3499060-3499060
3 ASPA NM_000049.3(ASPA):c.654C>A (p.Cys218Ter) SNV Pathogenic 2608 rs104894549 17:3397663-3397663 17:3494369-3494369
4 ASPA NM_000049.4(ASPA):c.693C>A (p.Tyr231Ter) SNV Pathogenic 2609 rs12948217 17:3397702-3397702 17:3494408-3494408
5 ASPA ASPA, 4-BP DEL, 876AGAA Deletion Pathogenic 2610
6 ASPA ASPA, 1-BP DEL, 32T Deletion Pathogenic 2611
7 ASPA NM_000049.3(ASPA):c.692A>G (p.Tyr231Cys) SNV Pathogenic 2612 rs104894550 17:3397701-3397701 17:3494407-3494407
8 ASPA ASPA, EX4DEL Deletion Pathogenic 2613
9 ASPA NM_001321336.1(SPATA22):c.-73-6832T>C SNV Pathogenic 2614 rs104894551 17:3379524-3379524 17:3476230-3476230
10 ASPA NM_000049.3(ASPA):c.212G>A (p.Arg71His) SNV Pathogenic 2616 rs104894553 17:3379665-3379665 17:3476371-3476371
11 ASPA NM_000049.4(ASPA):c.147dup (p.Pro50fs) Duplication Pathogenic 661638 rs1597422432 17:3379596-3379597 17:3476302-3476303
12 ASPA NM_000049.3(ASPA):c.550C>T (p.Gln184Ter) SNV Pathogenic 662022 rs1597439028 17:3392552-3392552 17:3489258-3489258
13 ASPA NC_000017.11:g.(?_3489225)_(3499098_?)del Deletion Pathogenic 666229 17:3392519-3402392 17:3489225-3499098
14 EMC6 NC_000017.11:g.(?_3489235)_(3729555_?)del Deletion Pathogenic 583521 17:3392529-3632849 17:3489235-3729555
15 ASPA NM_000049.4(ASPA):c.502C>T (p.Arg168Cys) SNV Pathogenic 813438 rs937670540 17:3386862-3386862 17:3483568-3483568
16 ASPA NM_000049.4(ASPA):c.437_449del (p.Ser146fs) Deletion Pathogenic 870537 17:3386796-3386808 17:3483502-3483514
17 ASPA NM_000049.4(ASPA):c.309dup (p.Asp104fs) Duplication Pathogenic 915436 17:3384965-3384966 17:3481671-3481672
18 ASPA NM_000049.4(ASPA):c.744+1G>A SNV Pathogenic 972712 17:3397754-3397754 17:3494460-3494460
19 ASPA NM_000049.4(ASPA):c.854A>C (p.Glu285Ala) SNV Pathogenic 2605 rs28940279 17:3402294-3402294 17:3499000-3499000
20 ASPA NM_001321336.1(SPATA22):c.-74+14393_-74+14396del Microsatellite Pathogenic/Likely pathogenic 371665 rs766720790 17:3402310-3402313 17:3499016-3499019
21 ASPA NM_000049.3(ASPA):c.503G>A (p.Arg168His) SNV Pathogenic/Likely pathogenic 550697 rs770706390 17:3386863-3386863 17:3483569-3483569
22 ASPA NM_000049.4(ASPA):c.634+1G>T SNV Pathogenic/Likely pathogenic 551174 rs753871454 17:3392637-3392637 17:3489343-3489343
23 ASPA NM_000049.3(ASPA):c.820G>A (p.Gly274Arg) SNV Pathogenic/Likely pathogenic 188788 rs761064915 17:3402260-3402260 17:3498966-3498966
24 ASPA NM_000049.3(ASPA):c.859G>A (p.Ala287Thr) SNV Pathogenic/Likely pathogenic 188803 rs774323189 17:3402299-3402299 17:3499005-3499005
25 ASPA NM_000049.3(ASPA):c.79G>A (p.Gly27Arg) SNV Pathogenic/Likely pathogenic 188888 rs766328537 17:3379532-3379532 17:3476238-3476238
26 ASPA NM_000049.3(ASPA):c.541C>A (p.Pro181Thr) SNV Pathogenic/Likely pathogenic 188940 rs786204572 17:3392543-3392543 17:3489249-3489249
27 ASPA NM_000049.3(ASPA):c.746A>T (p.Asp249Val) SNV Pathogenic/Likely pathogenic 2615 rs104894552 17:3402186-3402186 17:3498892-3498892
28 ASPA NM_000049.3(ASPA):c.212G>A (p.Arg71His) SNV Pathogenic/Likely pathogenic 2616 rs104894553 17:3379665-3379665 17:3476371-3476371
29 ASPA NM_001321336.1(SPATA22):c.-73-12212dup Duplication Pathogenic/Likely pathogenic 370554 rs756198538 17:3384897-3384898 17:3481603-3481604
30 ASPA NM_000049.3(ASPA):c.745-2A>G SNV Likely pathogenic 371178 rs1057517066 17:3402183-3402183 17:3498889-3498889
31 ASPA NM_000049.3(ASPA):c.237-1G>T SNV Likely pathogenic 371463 rs1057517291 17:3384896-3384896 17:3481602-3481602
32 ASPA NM_001321336.1(SPATA22):c.-74+14439_-74+14440del Deletion Likely pathogenic 371202 rs1057517085 17:3402266-3402267 17:3498972-3498973
33 ASPA NM_000049.3(ASPA):c.2T>C (p.Met1Thr) SNV Likely pathogenic 370934 rs1057516879 17:3379455-3379455 17:3476161-3476161
34 ASPA NM_001321336.1(SPATA22):c.-74+19047_-74+19048del Deletion Likely pathogenic 370450 rs1057516498 17:3397658-3397659 17:3494364-3494365
35 ASPA NM_000049.3(ASPA):c.640G>T (p.Glu214Ter) SNV Likely pathogenic 370344 rs1057516416 17:3397649-3397649 17:3494355-3494355
36 ASPA NM_000049.3(ASPA):c.867C>A (p.Tyr289Ter) SNV Likely pathogenic 370795 rs375736464 17:3402307-3402307 17:3499013-3499013
37 ASPA NM_001321336.1(SPATA22):c.-74+14344del Deletion Likely pathogenic 370201 rs1057516309 17:3402362-3402362 17:3499068-3499068
38 ASPA NM_001321336.1(SPATA22):c.-73-12213del Deletion Likely pathogenic 371046 rs1057516962 17:3384905-3384905 17:3481611-3481611
39 ASPA NM_001321336.1(SPATA22):c.-74+14343del Deletion Likely pathogenic 371424 rs1057517260 17:3402363-3402363 17:3499069-3499069
40 ASPA NM_001321336.1(SPATA22):c.-74+19004del Deletion Likely pathogenic 370207 rs1057516315 17:3397702-3397702 17:3494408-3494408
41 ASPA NM_000049.3(ASPA):c.731A>G (p.His244Arg) SNV Likely pathogenic 371086 rs1057516995 17:3397740-3397740 17:3494446-3494446
42 ASPA NM_001321336.1(SPATA22):c.-73-12213_-73-12212del Deletion Likely pathogenic 189005 rs786204620 17:3384904-3384905 17:3481610-3481611
43 ASPA NM_001321336.1(SPATA22):c.-73-6793del Deletion Likely pathogenic 189049 rs767666474 17:3379485-3379485 17:3476191-3476191
44 ASPA NM_000049.3(ASPA):c.527-2A>C SNV Likely pathogenic 550715 rs778385612 17:3392527-3392527 17:3489233-3489233
45 ASPA NM_000049.3(ASPA):c.604G>C (p.Ala202Pro) SNV Likely pathogenic 488070 rs147763700 17:3392606-3392606 17:3489312-3489312
46 ASPA NM_000049.3(ASPA):c.47T>C (p.Ile16Thr) SNV Likely pathogenic 550560 rs769653717 17:3379500-3379500 17:3476206-3476206
47 ASPA NM_001321336.1(SPATA22):c.-73-14183_-73-14182dup Duplication Likely pathogenic 550593 rs1555539105 17:3386873-3386874 17:3483579-3483580
48 ASPA NM_000049.3(ASPA):c.236+1G>A SNV Likely pathogenic 550670 rs1555538157 17:3379690-3379690 17:3476396-3476396
49 ASPA NM_001321336.1(SPATA22):c.-73-12350del Deletion Likely pathogenic 551932 rs1555538825 17:3385042-3385042 17:3481748-3481748
50 ASPA NM_001321336.1(SPATA22):c.-74+19016_-74+19019del Deletion Likely pathogenic 552391 rs1555540674 17:3397687-3397690 17:3494393-3494396

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

73 (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:

36
# 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 extracellular exosome GO:0070062 9.56 TPP1 SLC13A3 MYO1D GPT FOLH1 DDC
2 mitochondrial matrix GO:0005759 9.46 NAT8L GLUD1 ALDH5A1 ACSS1
3 myelin sheath GO:0043209 8.8 PLP1 MYO1D MBP

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

# Name GO ID Score Top Affiliating Genes
1 central nervous system development GO:0007417 9.54 TPP1 MBP ALDH5A1
2 substantia nigra development GO:0021762 9.33 PLP1 MBP GLUD1
3 central nervous system myelination GO:0022010 9.32 PLP1 ASPA
4 axon ensheathment GO:0008366 9.26 PLP1 MBP
5 cellular amino acid metabolic process GO:0006520 9.13 GLUD1 DDC ACY1
6 cellular amino acid biosynthetic process GO:0008652 9.02 NAT8L GPT GLUD1 FOLH1 ASPA

Molecular functions related to Canavan Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.8 PLP1 GLUD1 BRCA1 ASPA ALDH5A1 ACY3
2 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides GO:0016811 9.16 ASPA ACY3
3 structural constituent of myelin sheath GO:0019911 8.96 PLP1 MBP
4 aminoacylase activity GO:0004046 8.8 ASPA ACY3 ACY1

Sources for Canavan Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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