alpers disease |
Disease ID | 1329 |
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Disease | alpers disease |
Definition | A rare genetic syndrome with an autosomal recessive pattern of inheritance. It is caused by a mutation in the gene for the mitochondrial DNA polymerase POLG. Clinical signs are usually not present at birth but develop within the first two years of life and include hypoglycemia from underlying liver dysfunction, failure to thrive, spasticity, myoclonus and seizures. The clinical course follows a progression of neurologic disability and hepatic failure. The prognosis is poor with survival outside the first decade unlikely. |
Synonym | ahs alper disease alper syndrome alper's disease alper's syndrome alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis alpers dis alpers huttenlocher disease alpers huttenlocher syndrome alpers progressive infantile poliodystrophy alpers syndrome (disorder) alpers' disease alpers' disease or gray-matter degeneration alpers' syndrome alpers-huttenlocher syndrome disease, alpers' gray matter degeneration mitochondrial dna depletion syndrome 4a (alpers type) mtdps4a neuronal degeneration of childhood with liver disease, progressive pndc poliodystrophy poliodystrophy, nos progressive neuronal degeneration of childhood with liver disease progressive neuronal degeneration with liver cirrhosis progressive sclerosing poliodystrophies progressive sclerosing poliodystrophy progressive sclerosing poliodystrophy (disorder) spongy glioneuronal dystrophy syndrome, alpers syndrome, alpers-huttenlocher |
Orphanet | |
OMIM | |
DOID | |
ICD10 | |
UMLS | C0205710 |
SNOMED-CT | |
Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:4) C0038220 | status epilepticus | 4 C0014544 | epilepsy | 1 C0021843 | bowel obstruction | 1 C0751651 | mitochondrial disorder | 1 |
Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
Inferring Gene | (Waiting for update.) |
Text Mined Gene | (Waiting for update.) |
Locus | (Waiting for update.) |
Disease ID | 1329 |
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Disease | alpers disease |
Integrated Phenotype | (Waiting for update.) |
Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:4) |
Disease ID | 1329 |
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Disease | alpers disease |
Manually Symptom | (Waiting for update.) |
Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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(Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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(Waiting for update.) |
All Snps(Total Genotypes:14) | |||||||||||||
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snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
rs113994094 | 12210792 | 5428 | POLG | umls:C0205710 | UNIPROT | Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. | 0.48868614 | 2002 | POLG | 15 | 89330184 | G | A |
rs113994094 | NA | 5428 | POLG | umls:C0205710 | CLINVAR | NA | 0.48868614 | NA | POLG | 15 | 89330184 | G | A |
rs113994095 | 19766516 | 5428 | POLG | umls:C0205710 | BeFree | We describe a 3.5-year-old female with Alpers disease with a POLG genotype of p.A467T/p.G848S and with a lethal outcome. | 0.48868614 | 2010 | POLG;MIR6766 | 15 | 89327201 | C | T |
rs113994095 | 18783964 | 5428 | POLG | umls:C0205710 | BeFree | Proof of progression over time: finally fulminant brain, muscle, and liver affection in Alpers syndrome associated with the A467T POLG1 mutation. | 0.48868614 | 2009 | POLG;MIR6766 | 15 | 89327201 | C | T |
rs113994095 | 11431686 | 5428 | POLG | umls:C0205710 | UNIPROT | Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. | 0.48868614 | 2001 | POLG;MIR6766 | 15 | 89327201 | C | T |
rs113994095 | NA | 5428 | POLG | umls:C0205710 | CLINVAR | NA | 0.48868614 | NA | POLG;MIR6766 | 15 | 89327201 | C | T |
rs113994096 | 12825077 | 5428 | POLG | umls:C0205710 | UNIPROT | Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy. | 0.48868614 | 2003 | POLG | 15 | 89325639 | G | A |
rs113994097 | 18294203 | 5428 | POLG | umls:C0205710 | BeFree | Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus. | 0.48868614 | 2008 | POLG | 15 | 89323426 | C | G |
rs113994097 | NA | 5428 | POLG | umls:C0205710 | CLINVAR | NA | 0.48868614 | NA | POLG | 15 | 89323426 | C | G |
rs113994098 | NA | 5428 | POLG | umls:C0205710 | CLINVAR | NA | 0.48868614 | NA | POLG | 15 | 89321792 | C | T |
rs121918047 | NA | 5428 | POLG | umls:C0205710 | CLINVAR | NA | 0.48868614 | NA | POLG | 15 | 89321242 | C | A |
rs267606959 | 20142534 | 5428 | POLG | umls:C0205710 | 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. | 0.48868614 | 2010 | POLG | 15 | 89318986 | G | A |
rs267606959 | NA | 5428 | POLG | umls:C0205710 | CLINVAR | NA | 0.48868614 | NA | POLG | 15 | 89318986 | G | A |
rs4154971 | 15534189 | 5428 | POLG | umls:C0205710 | UNIPROT | A novel polymerase gamma mutation in a family with ophthalmoplegia, neuropathy, and Parkinsonism. | 0.48868614 | 2004 | NA | NA | NA | NA | NA |
GWASdb Annotation(Total Genotypes:0) | |
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(Waiting for update.) |
GWASdb Snp Trait(Total Genotypes:0) | |
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(Waiting for update.) |
Mapped by lexical matching(Total Items:0) |
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(Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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(Waiting for update.) |
Disease ID | 1329 |
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Disease | alpers disease |
Case | (Waiting for update.) |