MCID: ALP003
MIFTS: 55

Alpers Syndrome malady

Neuronal, Metabolic, Liver categories

Summaries for Alpers Syndrome

Sources:
8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 44NINDS, 64Wikipedia, 47OMIM, 33MalaCards
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Genetics Home Reference:21 Alpers-Huttenlocher syndrome is one of the most severe of a group of conditions called the POLG-related disorders. The conditions in this group feature a range of similar signs and symptoms involving muscle-, nerve-, and brain-related functions. Alpers-Huttenlocher syndrome typically becomes apparent in children between ages 2 and 4. People with this condition usually have three characteristic features: recurrent seizures that do not improve with treatment (intractable epilepsy), loss of mental and movement abilities (psychomotor regression), and liver disease.

MalaCards: Alpers Syndrome, also known as alpers-huttenlocher syndrome, is related to n syndrome and adrenoleukodystrophy, and has symptoms including microcephaly, anomalies of eyes and vision and ataxia/incoordination/trouble of the equilibrium. An important gene associated with Alpers Syndrome is POLG (polymerase (DNA directed), gamma), and among its related pathways are Resolution of Abasic Sites (AP sites) and DNA replication initiation. The compounds abacavir and deoxyguanosine have been mentioned in the context of this disorder. Affiliated tissues include brain and liver, and related mouse phenotype mortality/aging.

Disease Ontology:8 A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has symptom convulsions.

NIH Rare Diseases:43 Alpers syndrome is a progressive neurologic disorder that begins during childhood and is complicated in many instances by serious liver disease. symptoms include increased muscle tone with exaggerated reflexes (spasticity), seizures, and loss of cognitive ability (dementia).   most often alpers syndrome is caused by mutations in the polg gene. last updated: 1/24/2011

NINDS:44 Alpers' disease is a progressive, neurodevelopmental, mitochondrial DNA depletion syndrome characterized by three co-occurring clinical symptoms: psychomotor regression (dementia); seizures; and liver disease.

Wikipedia:64 Alpers\' disease, also called Alpers\' syndrome,progressive sclerosing poliodystrophy, and progressive... more...

Description from OMIM:47 203700

Aliases & Classifications for Alpers Syndrome

Sources:
8Disease Ontology, 43NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 9diseasecard, 47OMIM, 22GTR, 44NINDS, 20GeneTests, 35MeSH, 57SNOMED-CT, 40NCIt, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal, Metabolic, Liver


Characteristics (Orphanet epidemiological data):

49
alpers syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

alpers syndrome 8 43 21 10 45 49 61
alpers-huttenlocher syndrome 8 43 20 21 49
progressive sclerosing poliodystrophy 8 22 21 44
alpers progressive infantile poliodystrophy 8 43 21
mitochondrial dna depletion syndrome 4a 8 9 47
alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis 43 21
alpers' disease 8 44
alpers disease 43 21
progressive neuronal degeneration of childhood with liver disease 49
alpers progressive sclerosing poliodystrophy 49
diffuse cerebral degeneration in infancy 43
diffuse cerebral sclerosis of schilder 21
gray-matter degeneration 8
alper's syndrome 8


External Ids:

Disease Ontology8 DOID:1442
MeSH35 D002549
OMIM47 203700
NCIt40 C35257
SNOMED-CT57 20415001
MESH via Orphanet36 D002549
ICD10 via Orphanet26 G31.8
SNOMED-CT via Orphanet58 20415001
UMLS via Orphanet62 C0205710

Related Diseases for Alpers Syndrome

Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Alpers Syndrome:



Diseases related to alpers syndrome

Clinical Features for Alpers Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

203700

Clinical synopsis from OMIM:

203700

Symptoms:

49 (show all 11)
  • microcephaly
  • anomalies of eyes and vision
  • ataxia/incoordination/trouble of the equilibrium
  • movement disorder
  • hypotonia
  • hypertonia/spasticity/rigidity/stiffness
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • autosomal recessive inheritance
  • convulsions

Drugs & Therapeutics for Alpers Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Alpers Syndrome

Drug clinical trials:

Search ClinicalTrials for Alpers Syndrome

Search NIH Clinical Center for Alpers Syndrome

Search CenterWatch for Alpers Syndrome

Genetic Tests for Alpers Syndrome

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Alpers Syndrome:

id Genetic test Affiliating Genes
1 Alpers-huttenlocher Syndrome20 POLG
2 Progressive Sclerosing Poliodystrophy22

Anatomical Context for Alpers Syndrome

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Alpers Syndrome:

33
Brain, Liver

Animal Models for Alpers Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Alpers Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107687.6RARS2, DARS2, REV3L, POLD1, POLE, POLG2

Publications for Alpers Syndrome

Sources:
51PubMed
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Articles related to Alpers Syndrome:

(show all 36)
idTitleAuthorsYear
1
Abnormalities in Glycogen Metabolism in a Patient with Alpers' Syndrome Presenting with Hypoglycemia. (24272679)
2013
2
Explosive onset non-epileptic jerks and profound hypotonia in an infant with Alpers-Huttenlocher syndrome. (23899957)
2013
3
Phenotypic and genotypic variability in Alpers syndrome. (22237560)
2012
4
Polymerase gamma deficiency (POLG): clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh's encephalopathy. (22342071)
2012
5
Alpers syndrome: an unusual etiology of failure to thrive. (22849523)
2012
6
Complete Deletion of a POLG1 Allele in a Patient with Alpers Syndrome. (23430898)
2012
7
Alpers syndrome: the natural history of a case highlighting neuroimaging, neuropathology, and fat metabolism. (22114215)
2012
8
Drug-resistant epilepsia and fulminant valproate liver toxicity. Alpers-Huttenlocher syndrome in two children confirmed post mortem by identification of p.W748S mutation in POLG gene. (21455106)
2011
9
Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome. (21235791)
2011
10
Alpers syndrome with mutations in POLG: clinical and investigative features. (22000311)
2011
11
Gender variability in presentation with Alpers' syndrome: a report of eight patients from the UAE. (21305355)
2011
12
POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome. (20691285)
2011
13
Application of oligonucleotide array CGH in the detection of a large intragenic deletion in POLG associated with Alpers Syndrome. (20708716)
2011
14
A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes. (20142534)
2010
15
Juvenile-onset Alpers syndrome: interpreting MRI findings. (20385895)
2010
16
Alpers syndrome presenting with anatomopathological features of fulminant autoimmune hepatitis. (20582478)
2010
17
Proof of progression over time: finally fulminant brain, muscle, and liver affection in Alpers syndrome associated with the A467T POLG1 mutation. (18783964)
2009
18
De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome. (19501198)
2009
19
Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus. (18294203)
2008
20
Alpers syndrome with prominent white matter changes. (17923349)
2008
21
Rapidly progressive neurological deterioration in a child with Alpers syndrome exhibiting a previously unremarkable brain MRI. (18991199)
2008
22
Molecular diagnosis of Alpers syndrome. (16545482)
2006
23
Alpers syndrome: progressive neuronal degeneration of children with liver disease. (17109792)
2006
24
POLG mutations and Alpers syndrome. (15929042)
2005
25
POLG mutations associated with Alpers syndrome and mitochondrial DNA depletion. (16130100)
2005
26
POLG mutations in Alpers syndrome. (16177225)
2005
27
Mono-allelic POLG expression resulting from nonsense-mediated decay and alternative splicing in a patient with Alpers syndrome. (16181814)
2005
28
Is variant Creutzfeldt-Jakob disease in young children misdiagnosed as Alpers' syndrome? An analysis of a national surveillance study. (15146014)
2004
29
POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. (15122711)
2004
30
Mitochondrial DNA depletion in Alpers syndrome. (15328560)
2004
31
Respiratory chain deficiency in Alpers syndrome. (11521212)
2001
32
Mitochondrial DNA polymerase gamma deficiency and mtDNA depletion in a child with Alpers' syndrome. (9894877)
1999
33
Early mitochondrial encephalomyopathy due to complex IV deficiency consistent with Alpers-Huttenlocher syndrome: report of two cases]. (10637838)
1999
34
Brain MR imaging findings in two patients with Alpers' syndrome. (8959359)
1996
35
Alpers' syndrome presenting with seizures and multiple stroke-like episodes in a 17-year-old male. (8605737)
1995
36
Progressive neuronal degeneration of childhood (Alpers syndrome) with hepatic cirrhosis. (8444257)
1993

Genetic Variations for Alpers Syndrome

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Alpers Syndrome:

63 (show all 18)
id Symbol AA change Variation SNP ID
1POLGp.Ala467ThrVAR_012155rs113994095
2POLGp.Thr251IleVAR_023664rs113994094
3POLGp.Pro587LeuVAR_023671rs113994096
4POLGp.Trp748SerVAR_023673
5POLGp.Tyr831CysVAR_023674rs4154971
6POLGp.Gly848SerVAR_023675
7POLGp.Arg232GlyVAR_058870
8POLGp.Leu244ProVAR_058872
9POLGp.Ala767AspVAR_058886
10POLGp.Gln879HisVAR_058890
11POLGp.Thr885SerVAR_058891
12POLGp.Thr914ProVAR_058892
13POLGp.Ala957ProVAR_058893
14POLGp.Arg1096HisVAR_058894
15POLGp.His1110TyrVAR_058895
16POLGp.His1134ArgVAR_058896
17POLGp.Lys1191AsnVAR_058898
18POLGp.Glu1136LysVAR_065092

Expression for genes affiliated with Alpers Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Alpers Syndrome

Search GEO for disease gene expression data for Alpers Syndrome.

Pathways for genes affiliated with Alpers Syndrome

Sources:
54Reactome, 30KEGG, 52QIAGEN, 38NCBI BioSystems Database, 12EMD Millipore
See all sources

Pathways related to Alpers Syndrome according to GeneCards/GeneDecks:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.6POLD1, POLE
2
Hide members
9.5POLE, POLA1
3
Hide members
9.4POLD1, POLE, POLG
49.4POLG, POLE, POLD1
59.2POLG, POLA1, POLD1
6
Hide members
9.1POLA1, POLE, POLD1
7
Hide members
9.1POLD1, POLE, POLA1
8
Hide members
9.1POLD1, POLE, POLA1
99.1POLD1, POLE, POLA1
10
Hide members
9.1POLA1, POLE, POLD1
11
Hide members
8.8RARS2, DARS2, DARS, FARS2
12
Hide members
8.8DGUOK, POLA1, POLE, POLD1
13
Hide members
7.5COX5A, DGUOK, POLG, POLG2, POLA1, POLE

Compounds for genes affiliated with Alpers Syndrome

Sources:
45Novoseek, 50PharmGKB, 11DrugBank, 24HMDB, 29IUPHAR
See all sources

Compounds related to Alpers Syndrome according to GeneCards/GeneDecks:

(show all 21)
idCompoundScoreTop Affiliating Genes
1abacavir45 50 1112.2POLG2, POLG
2deoxyguanosine45 2411.0DGUOK, POLG
3nelarabine45 1111.0POLA1, DGUOK
4clofarabine45 1110.9POLA1, DGUOK
5nucleoside459.9DGUOK, POLG, POLG2
6L-Aspartic Acid11 2410.7DARS2, DARS
7Cladribine119.7POLE, POLA1
8lamivudine45 1110.7POLG2, POLG
9diethyl dithiocarbamate459.4COX5A, POLG, POLG2
10didanosine45 1110.4POLG, DGUOK, COX5A
11nevirapine45 50 1111.4COX5A, POLG
12ethidium bromide459.4POLG, COX5A
13zidovudine45 1110.4COX5A, POLG, POLG2
14Adenosine monophosphate11 2410.1FARS2, DARS, DARS2, RARS2
15Adenosine triphosphate11 249.7DGUOK, FARS2, DARS, DARS2, RARS2
16datp29 249.6POLG, POLA1, POLE, POLD1, REV3L
17atp45 299.6DARS, POLG2, POLG, DGUOK, COX5A
18dctp45 249.4DGUOK, POLG, POLA1, POLE, POLD1, REV3L
19dgtp45 249.3DGUOK, POLG, POLA1, POLE, POLD1, REV3L
20phosphoric acid45 248.0RARS2, FARS2, POLG, POLA1, POLE, POLD1
21pyrophosphate45 248.0FARS2, POLG, POLA1, POLE, POLD1, REV3L

GO Terms for genes affiliated with Alpers Syndrome

Sources:
16Gene Ontology
See all sources

Cellular components related to Alpers Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial nucleoidGO:0426459.3POLG2, POLG, C10orf2
2mitochondrial matrixGO:0057598.9RARS2, DARS2, FARS2, DGUOK

Biological processes related to Alpers Syndrome according to GeneCards/GeneDecks:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1mitochondrial DNA replicationGO:00626410.0C10orf2, POLG
2DNA-dependent DNA replicationGO:0062619.7POLG, POLG2, REV3L
3base-excision repair, gap-fillingGO:0062879.6POLD1, POLE, POLG
4S phase of mitotic cell cycleGO:0000849.5POLA1, POLD1
5DNA replication initiationGO:0062709.4POLE, POLA1
6DNA synthesis involved in DNA repairGO:0007319.3POLA1, POLE, POLD1
7telomere maintenance via semi-conservative replicationGO:0322019.3POLD1, POLE, POLA1
8telomere maintenance via recombinationGO:0007229.3POLA1, POLE, POLD1
9translesion synthesisGO:0199859.2POLA1, POLD1, REV3L
10telomere maintenanceGO:0007239.2POLA1, POLE, POLD1
11DNA strand elongation involved in DNA replicationGO:0062719.2POLA1, POLD1
12tRNA aminoacylation for protein translationGO:0064189.1FARS2, DARS, DARS2, RARS2
13DNA replicationGO:0062609.0POLD1, POLE, POLA1, POLG2
14DNA repairGO:0062818.9POLD1, POLE, POLA1, POLG2
15nucleotide-excision repair, DNA gap fillingGO:0062978.9REV3L, POLD1, POLE, POLA1
16gene expressionGO:0104678.8RARS2, DARS2, DARS, FARS2

Molecular functions related to Alpers Syndrome according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1aspartate-tRNA ligase activityGO:0048159.9DARS2, DARS
2tRNA bindingGO:0000499.6DARS2, FARS2
33-5 exonuclease activityGO:0084089.1REV3L, POLD1, POLA1
4chromatin bindingGO:0036828.7POLD1, POLE, POLA1, POLG
54 iron, 4 sulfur cluster bindingGO:0515398.7POLA1, POLE, POLD1, REV3L
6nucleotide bindingGO:0001668.6POLA1, POLE, POLD1, REV3L
7DNA-directed DNA polymerase activityGO:0038878.2REV3L, POLD1, POLE, POLA1, POLG2, POLG
8ATP bindingGO:0055247.9C10orf2, DGUOK, FARS2, DARS, DARS2, RARS2

Products for genes affiliated with Alpers Syndrome

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Sources for Alpers Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet