eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| schilder disease | ||||
| Disease ID | 853 |
|---|---|
| Disease | schilder disease |
| Definition | A rare central nervous system demyelinating condition affecting children and young adults. Pathologic findings include a large, sharply defined, asymmetric focus of myelin destruction that may involve an entire lobe or cerebral hemisphere. The clinical course tends to be progressive and includes dementia, cortical blindness, cortical deafness, spastic hemiplegia, and pseudobulbar palsy. Concentric sclerosis of Balo is differentiated from diffuse cerebral sclerosis of Schilder by the pathologic finding of alternating bands of destruction and preservation of myelin in concentric rings. Alpers' Syndrome refers to a heterogeneous group of diseases that feature progressive cerebral deterioration and liver disease. (From Adams et al., Principles of Neurology, 6th ed, p914; Dev Neurosci 1991;13(4-5):267-73) |
| Synonym | alpers syndrome cerebral sclerosis, diffuse diffuse cerebral scleroses diffuse cerebral sclerosis diffuse cerebral sclerosis of schilder diffuse cerebral sclerosis of schilder [disease/finding] diffuse scleroses, myelinoclastic diffuse sclerosis diffuse sclerosis, myelinoclastic disease schilders disease, schilder disease, schilder's enceph periaxialis enceph periaxialis concentrica enceph periaxialis diffusa encephalitis periaxialis encephalitis periaxialis concentrica encephalitis periaxialis diffusa encephalitis periaxialis, diffusa encephalitis periaxialis, schilder's encephalitis, periaxialis diffusa leukodystrophy, sudanophilic leukoencephalitis, subacute myelinoclastic diffuse scleroses myelinoclastic diffuse sclerosis poliodystrophia cerebri schilder dis schilder's disease schilder's disease (disorder) schilders dis schilders disease scleroses, myelinoclastic diffuse sclerosis, diffuse sclerosis, diffuse cerebral sclerosis, myelinoclastic diffuse sclerosis, sudanophilic cerebral sudanophilic cerebral sclerosis |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0007795 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:18) 120 | ADD3 | 2.711 | DISEASES 197 | AHSG | 1.183 | DISEASES 501 | ALDH7A1 | 1.39 | DISEASES 842 | CASP9 | 1.417 | DISEASES 55157 | DARS2 | 4.21 | DISEASES 2593 | GAMT | 2.503 | DISEASES 3030 | HADHA | 1.305 | DISEASES 4513 | MT-CO2 | 2.022 | DISEASES 4538 | MT-ND4 | 2.263 | DISEASES 4540 | MT-ND5 | 2.028 | DISEASES 4566 | MT-TK | 4.134 | DISEASES 25973 | PARS2 | 3.746 | DISEASES 11232 | POLG2 | 2.94 | DISEASES 5787 | PTPRB | 2.802 | DISEASES 57038 | RARS2 | 3.134 | DISEASES 6834 | SURF1 | 3.184 | DISEASES 1678 | TIMM8A | 2.279 | DISEASES 7084 | TK2 | 3.866 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 853 |
|---|---|
| Disease | schilder disease |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:2) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 853 |
|---|---|
| Disease | schilder disease |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
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 |
| rs113994095 | 18783964 | 5428 | POLG | umls:C0007795 | BeFree | Proof of progression over time: finally fulminant brain, muscle, and liver affection in Alpers syndrome associated with the A467T POLG1 mutation. | 0.139507596 | 2009 | POLG;MIR6766 | 15 | 89327201 | C | T |
| rs113994097 | 18294203 | 5428 | POLG | umls:C0007795 | BeFree | Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus. | 0.139507596 | 2008 | POLG | 15 | 89323426 | C | G |
| rs267606959 | 20142534 | 5428 | POLG | umls:C0007795 | BeFree | The heterozygous presence of the novel p.P1073L mutation in trans with another recessive POLG mutation causes a hepatocerebral disorder identical or very similar to Alpers syndrome. | 0.139507596 | 2010 | POLG | 15 | 89318986 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0100704 | Cortical visual impairment | MP:0020194 | abnormal glycosphingolipid level | any anomaly in the concentrations of glycosphingolipids, a subtype of glycolipids containing the amino alcohol sphingosine, in the body |
| HP:0006918 | Diffuse cerebral sclerosis | MP:0002908 | delayed wound healing | longer time requirement for the ability to self-repair and close wounds than normal |
| Disease ID | 853 |
|---|---|
| Disease | schilder disease |
| Case | (Waiting for update.) |