eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| canavan disease | ||||
| Disease ID | 219 |
|---|---|
| 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 | |
| OMIM | |
| DOID | |
| UMLS | C0206307 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:32) 23287 | AGTPBP1 | 3.843 | DISEASES 438 | ASMT | 2.974 | DISEASES 57194 | ATP10A | 3.217 | DISEASES 672 | BRCA1 | 2.026 | DISEASES 773 | CACNA1A | 1.216 | DISEASES 23418 | CRB1 | 2.048 | DISEASES 1644 | DDC | 1.809 | DISEASES 2706 | GJB2 | 2.11 | DISEASES 57165 | GJC2 | 2.59 | DISEASES 10020 | GNE | 2.13 | DISEASES 2913 | GRM3 | 2.3 | DISEASES 9446 | GSTO1 | 1.962 | DISEASES 8349 | HIST2H2BE | 1.299 | DISEASES 3155 | HMGCL | 2.855 | DISEASES 3736 | KCNA1 | 2.131 | DISEASES 3908 | LAMA2 | 2.728 | DISEASES 9211 | LGI1 | 1.678 | DISEASES 54551 | MAGEL2 | 2.756 | DISEASES 4155 | MBP | 2.051 | DISEASES 4647 | MYO7A | 2.024 | DISEASES 339983 | NAT8L | 5.271 | DISEASES 4692 | NDN | 2.192 | DISEASES 8856 | NR1I2 | 1.356 | DISEASES 5053 | PAH | 1.893 | DISEASES 5828 | PEX2 | 3.04 | DISEASES 9232 | PTTG1 | 1.949 | DISEASES 5923 | RASGRF1 | 2.806 | DISEASES 6223 | RPS19 | 1.922 | DISEASES 26503 | SLC17A5 | 1.887 | DISEASES 10165 | SLC25A13 | 2.103 | DISEASES 60684 | TRAPPC11 | 3.53 | DISEASES 7102 | TSPAN7 | 2.891 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 219 |
|---|---|
| Disease | canavan disease |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:18) HP:0002020 | Gastroesophageal reflux HP:0001263 | Global developmental delay HP:0001250 | Seizures HP:0001371 | Flexion contracture HP:0002353 | EEG abnormality HP:0000618 | Blindness HP:0000256 | Macrocephaly HP:0000505 | Visual impairment HP:0100543 | Cognitive impairment HP:0000365 | Hearing impairment HP:0000649 | Abnormality of visual evoked potentials HP:0002376 | Developmental regression HP:0000648 | Optic atrophy HP:0001252 | Muscular hypotonia HP:0004372 | Reduced consciousness/confusion HP:0007703 | Abnormality of retinal pigmentation HP:0001276 | Hypertonia HP:0008872 | Feeding difficulties in infancy |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:4) HP:0040197 | Encephalomalacia | 1 HP:0001337 | Tremor | 1 HP:0001297 | Cerebral vascular events | 1 HP:0000803 | Cortical cysts | 1 |
| Disease ID | 219 |
|---|---|
| Disease | canavan disease |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:5) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Manually Genotypes:6) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| ASPA | p.E285A, p.Y231X, p.A305E | doi:10.1038/gim.2016.30 | Carrier screening in the era of expanding genetic technology |
| ASPA | c.244dupA | doi:10.1038/gim.2015.123 | Expanded genetic screening panel for the Ashkenazi Jewish population |
| ASPA | p.Y231X | doi:10.1038/gim.2015.123 | Expanded genetic screening panel for the Ashkenazi Jewish population |
| ASPA | p.E285A | doi:10.1038/gim.2015.123 | Expanded genetic screening panel for the Ashkenazi Jewish population |
| ASPA | p.Y231X8 | doi:10.1038/gim.2015.123 | Expanded genetic screening panel for the Ashkenazi Jewish population |
| ASPA | p.A305E | doi:10.1038/gim.2015.123 | Expanded genetic screening panel for the Ashkenazi Jewish population |
Text Mining Genotype(Total 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) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:6) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0008872 | Feeding difficulties in infancy | MP:0011075 | abnormal macrophage activation involved in immune response | anomaly in the process in which a change in response and behavior of a macrophage results from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response |
| HP:0000649 | Abnormality of visual evoked potentials | MP:0013621 | decreased internal diameter of femur | reduced cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur |
| HP:0001263 | Global developmental delay | MP:0002084 | abnormal developmental patterning | abnormal systematic arrangement of the developing body along an axis |
| HP:0000648 | Optic atrophy | MP:0012506 | brain atrophy | acquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal chan |
| HP:0001252 | Muscular hypotonia | MP:0004144 | hypotonia | decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness |
| HP:0007703 | Abnormality of retinal pigmentation | MP:0011665 | d-loop transposition of the great arteries | complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th |
Mapped by homologous gene(Total Items:18) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000649 | Abnormality of visual evoked potentials | MP:0020080 | increased bone mineralization | increase in the rate at which minerals are deposited into bone |
| HP:0001252 | Muscular hypotonia | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0100543 | Cognitive impairment | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000618 | Blindness | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001263 | Global developmental delay | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000648 | Optic atrophy | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001276 | Hypertonia | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001250 | Seizures | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000256 | Macrocephaly | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002353 | EEG abnormality | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0000365 | Hearing impairment | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000505 | Visual impairment | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0002376 | Developmental regression | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0008872 | Feeding difficulties in infancy | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0001371 | Flexion contracture | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002020 | Gastroesophageal reflux | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| HP:0007703 | Abnormality of retinal pigmentation | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0004372 | Reduced consciousness/confusion | MP:0013405 | increased circulating lactate level | greater amount of lactate in the blood which is produced from pyruvate by lactate dehydrogenase |
| Disease ID | 219 |
|---|---|
| Disease | canavan disease |
| Case | (Waiting for update.) |