PedAM

Pediatric Disease Annotations & Medicines


	canavan disease

Disease ID	254
Disease	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)
Synonym	acy2 deficiency aminoacylase 2 deficiency asp deficiency aspa deficiency aspartoacylase deficiency brain, familial spongy degeneration canavan disease [disease/finding] canavan van bogaert bertrand disease canavan's disease canavan-van bogaert-bertrand disease canavan-van-bogaert-bertrand disease canavans disease cavanan-van bogaert-bertrand disease disease, canavan disease, canavan-van bogaert-bertrand disease, von bogaert-bertrand familial idiocy with spongy degneration of neuraxis leukodystrophy, spongiform spongiform leucodystrophy spongiform leukodystrophy spongy degeneration of central nervous system spongy degeneration of central nervous system (disorder) spongy degeneration of infancy spongy degeneration of the brain spongy degeneration of the central nervous system spongy degeneration of white matter spongy degeneration of white matter in infancy spongy disease of central nervous system spongy disease of white matter syndrome, van bogaert-bertrand van bogaert bertrand syndrome van bogaert-bertrand syndrome von bogaert bertrand disease von bogaert-bertrand disease
Orphanet	ORPHANET:141
OMIM	OMIM:271900
DOID	DOID:3613
UMLS	C0206307
MeSH	D017825
SNOMED-CT	SNOMEDCT_US_2016_09_01:80544005
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) ASPA \| 443 \| CLINVAR;CTD_human;UNIPROT;GHR
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 443 \| ASPA \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:62) 5010 \| CLDN11 \| DISEASES 3385 \| ICAM3 \| DISEASES 79152 \| FA2H \| DISEASES 6511 \| SLC1A6 \| DISEASES 4669 \| NAGLU \| DISEASES 345 \| APOC3 \| DISEASES 2690 \| GHR \| DISEASES 55902 \| ACSS2 \| DISEASES 2670 \| GFAP \| DISEASES 2346 \| FOLH1 \| DISEASES 23417 \| MLYCD \| DISEASES 443 \| ASPA \| DISEASES 57192 \| MCOLN1 \| DISEASES 3073 \| HEXA \| DISEASES 2559 \| GABRA6 \| DISEASES 64849 \| SLC13A3 \| DISEASES 178 \| AGL \| DISEASES 9317 \| PTER \| DISEASES 2562 \| GABRB3 \| DISEASES 784 \| CACNB3 \| DISEASES 4902 \| NRTN \| DISEASES 6323 \| SCN1A \| DISEASES 5354 \| PLP1 \| DISEASES 435 \| ASL \| DISEASES 4023 \| LPL \| DISEASES 23209 \| MLC1 \| DISEASES 4281 \| MID1 \| DISEASES 7681 \| MKRN3 \| DISEASES 7915 \| ALDH5A1 \| DISEASES 9495 \| AKAP5 \| DISEASES 4692 \| NDN \| DISEASES 60684 \| TRAPPC11 \| DISEASES 8856 \| NR1I2 \| DISEASES 9232 \| PTTG1 \| DISEASES 26503 \| SLC17A5 \| DISEASES 57194 \| ATP10A \| DISEASES 5828 \| PEX2 \| DISEASES 1644 \| DDC \| DISEASES 773 \| CACNA1A \| DISEASES 2913 \| GRM3 \| DISEASES 57165 \| GJC2 \| DISEASES 23418 \| CRB1 \| DISEASES 8349 \| HIST2H2BE \| DISEASES 9446 \| GSTO1 \| DISEASES 9211 \| LGI1 \| DISEASES 3155 \| HMGCL \| DISEASES 23287 \| AGTPBP1 \| DISEASES 7102 \| TSPAN7 \| DISEASES 438 \| ASMT \| DISEASES 3736 \| KCNA1 \| DISEASES 4155 \| MBP \| DISEASES 2706 \| GJB2 \| DISEASES 10020 \| GNE \| DISEASES 4647 \| MYO7A \| DISEASES 10165 \| SLC25A13 \| DISEASES 3908 \| LAMA2 \| DISEASES 5923 \| RASGRF1 \| DISEASES 339983 \| NAT8L \| DISEASES 672 \| BRCA1 \| DISEASES 54551 \| MAGEL2 \| DISEASES 5053 \| PAH \| DISEASES 6223 \| RPS19 \| DISEASES
Locus	(Waiting for update.)

Disease ID	254
Disease	canavan disease
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:18) HP:0000505 \| Visual impairment HP:0004372 \| Reduced consciousness/confusion HP:0002376 \| Developmental regression HP:0001371 \| Flexion contracture HP:0008872 \| Feeding difficulties in infancy HP:0000256 \| Macrocephaly HP:0000648 \| Optic atrophy HP:0000649 \| Abnormality of visual evoked potentials HP:0001250 \| Seizures HP:0001276 \| Hypertonia HP:0100543 \| Cognitive impairment HP:0002020 \| Gastroesophageal reflux HP:0001263 \| Global developmental delay HP:0000618 \| Blindness HP:0000365 \| Hearing impairment HP:0002353 \| EEG abnormality HP:0001252 \| Muscular hypotonia HP:0007703 \| Abnormality of retinal pigmentation
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:3) HP:0001337 \| Tremor \| 1 HP:0001297 \| Cerebral vascular events \| 1 HP:0000803 \| Cortical cysts \| 1

Disease ID	254
Disease	canavan disease
Manually Symptom	UMLS \| Name(Total Manually Symptoms:5) C1527390 \| intracranial neoplasm C0241775 \| organic aciduria C0206307 \| spongiform leukodystrophy C0206307 \| aspartoacylase deficiency C0008350 \| cholelithiasis
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:3)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs28940279	8659549	443	ASPA	umls:C0206307	UNIPROT	In vitro expression of mutant cDNA clones demonstrated that all of these mutations led to a deficiency of ASPA and should therefore result in Canavan disease.	0.540030617	1996	ASPA;SPATA22	17	3499000	A	C
rs28940574	16217711	443	ASPA	umls:C0206307	BeFree	We present here a patient with a mild form of Canavan disease confirmed with the absent ASPA activity, atypical MRI findings, related to compound heterozygosity for a missense mutation, p.Tyr288Cys, and the known pan-European mutation, the p.Ala305Glu.	0.540030617	2005	ASPA;SPATA22	17	3499060	C	A
rs28940574	10407784	443	ASPA	umls:C0206307	UNIPROT	The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients.	0.540030617	1999	ASPA;SPATA22	17	3499060	C	A

GWASdb Annotation(Total Genotypes:0)
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GWASdb Snp Trait(Total Genotypes:0)
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Mapped by lexical matching(Total Items:0)
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Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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