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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   alpers disease
  

Disease ID 1329
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)
5428  |  POLG  |  CLINVAR;CTD_human;ORPHANET;UNIPROT
197  |  AHSG  |  OMIM
Inferring Gene(Waiting for update.)
Text Mined Gene(Waiting for update.)
Locus(Waiting for update.)
Disease ID 1329
Disease alpers disease
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:4)
Disease ID 1329
Disease alpers 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:14)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs113994094122107925428POLGumls:C0205710UNIPROTMutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.0.488686142002POLG1589330184GA
rs113994094NA5428POLGumls:C0205710CLINVARNA0.48868614NAPOLG1589330184GA
rs113994095197665165428POLGumls:C0205710BeFreeWe describe a 3.5-year-old female with Alpers disease with a POLG genotype of p.A467T/p.G848S and with a lethal outcome.0.488686142010POLG;MIR67661589327201CT
rs113994095187839645428POLGumls:C0205710BeFreeProof of progression over time: finally fulminant brain, muscle, and liver affection in Alpers syndrome associated with the A467T POLG1 mutation.0.488686142009POLG;MIR67661589327201CT
rs113994095114316865428POLGumls:C0205710UNIPROTMutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.0.488686142001POLG;MIR67661589327201CT
rs113994095NA5428POLGumls:C0205710CLINVARNA0.48868614NAPOLG;MIR67661589327201CT
rs113994096128250775428POLGumls:C0205710UNIPROTNovel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy.0.488686142003POLG1589325639GA
rs113994097182942035428POLGumls:C0205710BeFreeHomozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus.0.488686142008POLG1589323426CG
rs113994097NA5428POLGumls:C0205710CLINVARNA0.48868614NAPOLG1589323426CG
rs113994098NA5428POLGumls:C0205710CLINVARNA0.48868614NAPOLG1589321792CT
rs121918047NA5428POLGumls:C0205710CLINVARNA0.48868614NAPOLG1589321242CA
rs267606959201425345428POLGumls:C0205710BeFreeThe 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.0.488686142010POLG1589318986GA
rs267606959NA5428POLGumls:C0205710CLINVARNA0.48868614NAPOLG1589318986GA
rs4154971155341895428POLGumls:C0205710UNIPROTA novel polymerase gamma mutation in a family with ophthalmoplegia, neuropathy, and Parkinsonism.0.488686142004NANANANANA
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:0)
(Waiting for update.)
Disease ID 1329
Disease alpers disease
Case(Waiting for update.)