Disease browser and phenotype portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Hereditary Central Nervous System Demyelinating Diseases (D020279)
Parent Node: Heredodegenerative Disorders, Nervous System (D020271)
..Starting node ..Canavan Disease (D017825)
Child Nodes:
Sister Nodes:
..Alexander Disease (D038261) 1
..Amyloid Neuropathies, Familial (D028227) 1
..Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease (C565928)
..Bulbo-Spinal Atrophy, X-Linked (D055534) 1
..Canavan Disease (D017825)
..Cerebrocortical Degeneration of Infancy (C565863)
..Cockayne Syndrome (D003057) 6
..Dystonia Musculorum Deformans (D004422) 7
..Familial encephalopathy with neuroserpin inclusion bodies (C536841)
..Fatty Acid Hydroxylase-Associated Neurodegeneration (C580102)
..Gerstmann-Straussler-Scheinker Disease (D016098)
..Hepatolenticular Degeneration (D006527) 2
..Hereditary Central Nervous System Demyelinating Diseases (D020279) 29
..Hereditary Sensory and Autonomic Neuropathies (D009477) 12
..Hereditary Sensory and Motor Neuropathy (D015417) 164
..Huntington Disease (D006816) 3
..Huntington Disease-Like 2 (C564708)
..Huntington Disease-Like Syndrome (C580174)
..Lafora Disease (D020192)
..Lesch-Nyhan Syndrome (D007926) 1
..Lipodystrophy with Congenital Cataracts and Neurodegeneration (C564669)
..Menkes Kinky Hair Syndrome (D007706) 1
..Mental Retardation, X-Linked (D038901) 134
..Microphthalmia, Syndromic 10 (C566985)
..Muscular Dystrophy, Congenital, with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers (C563378)
..Myotonia Congenita (D009224) 5
..Myotonic Dystrophy (D009223) 1
..Navajo neurohepatopathy (C538344) 1
..Neuroacanthocytosis (D054546) 1
..Neurofibromatoses (D017253) 13
..Neuronal Ceroid-Lipofuscinoses (D009472) 9
..Neuropathy, Hereditary Sensory, Atypical (C564946)
..Optic Atrophies, Hereditary (D015418) 30
..Opticocochleodentate Degeneration (C563002)
..Pantothenate Kinase-Associated Neurodegeneration (D006211) 1
..Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease (C563789)
..Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain (C564894)
..Rett Syndrome (D015518) 5
..Scapuloperoneal Syndrome, Neurogenic, Kaeser Type (C566695)
..Spinal Muscular Atrophies of Childhood (D014897) 7
..Spinocerebellar Degenerations (D013132) 85
..Spongiform Encephalopathy with Neuropsychiatric Features (C564678)
..Tourette Syndrome (D005879) 2
..Tuberous Sclerosis (D014402) 4
..Unverricht-Lundborg Syndrome (D020194)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

1603

Name:

Canavan Disease

Definition:

A rare neurodegenerative condition of infancy or childhood characterized by white matter vacuolization and demeylination that gives rise to a spongy appearance. Aspartoacylase deficiency leads to an accumulation of N-acetylaspartate in astrocytes. Inheritance may be autosomal recessive or the illness may occur sporadically. This illness occurs more frequently in individuals of Ashkenazic Jewish descent. The neonatal form features the onset of hypotonia and lethargy at birth, rapidly progressing to coma and death. The infantile form features developmental delay, DYSKINESIAS, hypotonia, spasticity, blindness, and megalencephaly. The juvenile form is characterized by ATAXIA; OPTIC ATROPHY; and DEMENTIA. (From Adams et al., Principles of Neurology, 6th ed, p944; Am J Med Genet 1988 Feb;29(2):463-71)

Alternative IDs:

OMIM:271900

ParentIDs:

MESH:D020271|MESH:D020279

TreeNumbers:

C10.228.140.163.100.362.375 |C10.228.140.695.625.375 |C10.314.400.375 |C10.574.500.300 |C16.320.400.150 |C16.320.565.189.362.375 |C18.452.132.100.362.375 |C18.452.648.189.362.375

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Metabolic disease|Nervous system disease

Reference:

MedGen: D017825
MeSH: D017825
OMIM: 271900;

Genes: ASPA;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0002197	Generalized-onset seizure
3	HP:0002977	Aplasia/Hypoplasia involving the central nervous system
4	HP:0000618	Blindness
5	HP:0012444	Brain atrophy
6	HP:0007305	CNS demyelination
7	HP:0001476	Delayed closure of the anterior fontanelle
8	HP:0002376	Developmental regression
9	HP:0000365	Hearing impairment
10	HP:0001252	Hypotonia
11	HP:0000256	Macrocephaly
12	HP:0000639	Nystagmus
13	HP:0002179	Opisthotonus
14	HP:0000648	Optic atrophy

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000049.2(ASPA):c.32delT (p.Ile11Asnfs)	-1	-	Likely pathogenic	767666474	RCV000169442;	N	MedGen:C0206307,OMIM:271900,ORPHA:141,SNOMED CT:80544005	17	3379485	3379485	NM_000049.2:c.32delT	NP_000040.1:p.Ile11Asnfs	NC_000017.10:g.3379485delT	-	C0206307 271900 Spongy degeneration of central nervous system
NM_001128085.1(ASPA):c.71A>G (p.Glu24Gly)	-1	-	Pathogenic	104894551	RCV000002732;	N	MedGen:C0206307,OMIM:271900,ORPHA:141,SNOMED CT:80544005	17	3379524	3379524	NM_001128085.1:c.71A>G	NP_001121557.1:p.Glu24Gly	NC_000017.10:g.3379524A>G	OMIM Allelic Variant:608034.0010	C0206307 271900 Spongy degeneration of central nervous system
NM_000049.2(ASPA):c.79G>A (p.Gly27Arg)	-1	-	Likely pathogenic	766328537	RCV000169243;	N	MedGen:C0206307,OMIM:271900,ORPHA:141,SNOMED CT:80544005	17	3379532	3379532	NM_000049.2:c.79G>A	NP_000040.1:p.Gly27Arg	NC_000017.10:g.3379532G>A	-	C0206307 271900 Spongy degeneration of central nervous system
NM_000049.2(ASPA):c.237-2A>T	-1	-	Likely pathogenic	780936696	RCV000169526;	N	MedGen:C0206307,OMIM:271900,ORPHA:141,SNOMED CT:80544005	17	3384895	3384895	NM_000049.2:c.237-2A>T		NC_000017.10:g.3384895A>T	-	C0206307 271900 Spongy degeneration of central nervous system
NM_000049.2(ASPA):c.244_245delAT (p.Met82Valfs)	-1	-	Likely pathogenic	786204620	RCV000169388;	N	MedGen:C0206307,OMIM:271900,ORPHA:141,SNOMED CT:80544005	17	3384904	3384905	NM_000049.2:c.244_245delAT	NP_000040.1:p.Met82Valfs	NC_000017.10:g.3384904_3384905delAT	-	C0206307 271900 Spongy degeneration of central nervous system
NM_001128085.1(ASPA):c.433-2A>G	-1	-	Pathogenic	63751297	RCV000176967;	Y	MedGen:C0206307,OMIM:271900,ORPHA:141,SNOMED CT:80544005	17	3386791	3386791	NM_001128085.1:c.433-2A>G		NC_000017.10:g.3386791A>G	-	C0206307 271900 Spongy degeneration of central nervous system
NM_001128085.1(ASPA):c.454T>C (p.Cys152Arg)	-1	-	Pathogenic	104894548	RCV000002724;	N	MedGen:C0206307,OMIM:271900,ORPHA:141,SNOMED CT:80544005	17	3386814	3386814	NM_001128085.1:c.454T>C	NP_001121557.1:p.Cys152Arg	NC_000017.10:g.3386814T>C	OMIM Allelic Variant:608034.0002	C0206307 271900 Spongy degeneration of central nervous system
NM_000049.2(ASPA):c.541C>A (p.Pro181Thr)	-1	-	Likely pathogenic	786204572	RCV000169314;	N	MedGen:C0206307,OMIM:271900,ORPHA:141,SNOMED CT:80544005	17	3392543	3392543	NM_000049.2:c.541C>A	NP_000040.1:p.Pro181Thr	NC_000017.10:g.3392543C>A	-	C0206307 271900 Spongy degeneration of central nervous system
NM_001128085.1(ASPA):c.654C>A (p.Cys218Ter)	-1	-	Pathogenic	104894549	RCV000002726;	N	MedGen:C0206307,OMIM:271900,ORPHA:141,SNOMED CT:80544005	17	3397663	3397663	NM_001128085.1:c.654C>A	NP_001121557.1:p.Cys218Ter	NC_000017.10:g.3397663C>A	OMIM Allelic Variant:608034.0004	C0206307 271900 Spongy degeneration of central nervous system
NM_001128085.1(ASPA):c.692A>G (p.Tyr231Cys)	-1	-	Pathogenic	104894550	RCV000002730;	Y	MedGen:C0206307,OMIM:271900,ORPHA:141,SNOMED CT:80544005	17	3397701	3397701	NM_001128085.1:c.692A>G	NP_001121557.1:p.Tyr231Cys	NC_000017.10:g.3397701A>G	OMIM Allelic Variant:608034.0008	C0206307 271900 Spongy degeneration of central nervous system
NM_000049.2(ASPA):c.693C>A (p.Tyr231Ter)	-1	-	Pathogenic	12948217	RCV000002727;	Y	MedGen:C0206307,OMIM:271900,ORPHA:141,SNOMED CT:80544005	17	3397702	3397702	NM_000049.2:c.693C>A	NP_000040.1:p.Tyr231Ter	NC_000017.10:g.3397702C>A,NC_000017.10:g.3397702C>T	OMIM Allelic Variant:608034.0005	C0206307 271900 Spongy degeneration of central nervous system
NM_001128085.1(ASPA):c.746A>T (p.Asp249Val)	-1	-	Pathogenic	104894552	RCV000002733;	N	MedGen:C0206307,OMIM:271900,ORPHA:141,SNOMED CT:80544005	17	3402186	3402186	NM_001128085.1:c.746A>T	NP_001121557.1:p.Asp249Val	NC_000017.10:g.3402186A>T	OMIM Allelic Variant:608034.0011	C0206307 271900 Spongy degeneration of central nervous system
NM_000049.2(ASPA):c.820G>A (p.Gly274Arg)	-1	-	Likely pathogenic	761064915	RCV000169117;	N	MedGen:C0206307,OMIM:271900,ORPHA:141,SNOMED CT:80544005	17	3402260	3402260	NM_000049.2:c.820G>A	NP_000040.1:p.Gly274Arg	NC_000017.10:g.3402260G>A	-	C0206307 271900 Spongy degeneration of central nervous system
NM_000049.2(ASPA):c.854A>C (p.Glu285Ala)	-1	-	Pathogenic	28940279	RCV000002723;	Y	MedGen:C0206307,OMIM:271900,ORPHA:141,SNOMED CT:80544005	17	3402294	3402294	NM_000049.2:c.854A>C	NP_000040.1:p.Glu285Ala	NC_000017.10:g.3402294A>C	OMIM Allelic Variant:608034.0001	C0206307 271900 Spongy degeneration of central nervous system
NM_000049.2(ASPA):c.859G>A (p.Ala287Thr)	-1	-	Likely pathogenic	774323189	RCV000169134;	N	MedGen:C0206307,OMIM:271900,ORPHA:141,SNOMED CT:80544005	17	3402299	3402299	NM_000049.2:c.859G>A	NP_000040.1:p.Ala287Thr	NC_000017.10:g.3402299G>A	-	C0206307 271900 Spongy degeneration of central nervous system
NM_001128085.1(ASPA):c.914C>A (p.Ala305Glu)	-1	-	Pathogenic	28940574	RCV000002725;	Y	MedGen:C0206307,OMIM:271900,ORPHA:141,SNOMED CT:80544005	17	3402354	3402354	NM_001128085.1:c.914C>A	NP_001121557.1:p.Ala305Glu	NC_000017.10:g.3402354C>A	OMIM Allelic Variant:608034.0003,OMIM Allelic Variant:914C-A	C0206307 271900 Spongy degeneration of central nervous system