PNDC
MCID: ALP003
MIFTS: 60

Alpers Syndrome (PNDC) malady

Genetic diseases, Rare diseases, Neuronal diseases, Liver diseases categories
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Summaries for Alpers Syndrome

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Sources:
8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 44NINDS, 65Wikipedia, 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 adrenoleukodystrophy and balo's concentric sclerosis, and has symptoms including convulsions, movement disorder and anomalies of eyes and vision. An important gene associated with Alpers Syndrome is POLG (polymerase (DNA directed), gamma), and among its related pathways are tRNA Aminoacylation and Metabolism. The compounds abacavir and deoxyguanosine have been mentioned in the context of this disorder. Affiliated tissues include liver, eye and brain.

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

Description from OMIM:47 203700

Aliases & Classifications for Alpers Syndrome

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8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 44NINDS, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 62UMLS, 40NCIt, 35MeSH, 58SNOMED-CT, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Liver diseases


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 62
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
neuronal degeneration of childhood with liver disease, progressive 43
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
poliodystrophia cerebri progressiva 43
progressive cerebral poliodystrophy 43
infantile poliodystrophy 43
gray-matter degeneration 8
alper's syndrome 8
pndc 43


External Ids:

Disease Ontology8 DOID:1442
OMIM47 203700
NCIt40 C35257
MeSH35 D002549
SNOMED-CT58 20415001
MESH via Orphanet36 D002549
ICD10 via Orphanet26 G31.8
SNOMED-CT via Orphanet59 20415001
UMLS via Orphanet63 C0205710

Related Diseases for Alpers Syndrome

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



Diseases related to alpers syndrome

Symptoms for Alpers Syndrome

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Sources:
47OMIM, 8Disease Ontology
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Symptoms by clinical synopsis from OMIM:

203700

Clinical features from OMIM:

203700

Symptoms:

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

Drugs & Therapeutics for Alpers Syndrome

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Alpers Syndrome

Search NIH Clinical Center for Alpers Syndrome

Genetic Tests for Alpers Syndrome

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Sources:
20GeneTests, 22GTR
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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

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33MalaCards
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MalaCards organs/tissues related to Alpers Syndrome:

33
Liver, Eye, Brain

Animal Models for Alpers Syndrome or affiliated genes

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Publications for Alpers Syndrome

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Sources:
52PubMed
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Articles related to Alpers Syndrome:

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

Variations for Alpers Syndrome

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Alpers Syndrome:

64 (show all 18)
id Symbol AA change Variation ID 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

Clinvar genetic disease variations for Alpers Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1POLGNM_002693.2(POLG): c.1399G> A (p.Ala467Thr)single nucleotide variantPathogenicrs113994095GRCh37Chr 15, 89870432: 89870432
2POLGNM_002693.2(POLG): c.2542G> A (p.Gly848Ser)single nucleotide variantPathogenicrs113994098GRCh37Chr 15, 89865023: 89865023
3POLGNM_002693.2(POLG): c.2617G> T (p.Glu873Ter)single nucleotide variantPathogenicrs121918047GRCh37Chr 15, 89864473: 89864473
4POLGNM_002693.2(POLG): c.2243G> C (p.Trp748Ser)single nucleotide variantPathogenicrs113994097GRCh37Chr 15, 89866657: 89866657
5POLGPOLG, TRP1020TERundetermined variantPathogenic
6POLGNM_002693.2(POLG): c.3218C> T (p.Pro1073Leu)single nucleotide variantPathogenicrs267606959GRCh37Chr 15, 89862217: 89862217

Expression for genes affiliated with Alpers Syndrome

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2BioGPS, 15Gene Expression Omnibus DataSets
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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

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50PathCards, 55Reactome, 30KEGG
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Pathways related to Alpers Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.0FARS2, DARS2
2
Show member pathways
8.7DGUOK, COX5A, POLG2, POLG

Compounds for genes affiliated with Alpers Syndrome

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51PharmGKB, 45Novoseek, 11DrugBank, 24HMDB, 29IUPHAR
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Compounds related to Alpers Syndrome according to GeneCards/GeneDecks:

(show all 17)
idCompoundScoreTop Affiliating Genes
1abacavir51 45 1112.0POLG, POLG2
2deoxyguanosine45 2410.9POLG, DGUOK
3nevirapine45 51 1111.8COX5A, POLG
4dctp45 2410.8POLG, DGUOK
5lamivudine45 51 1111.8POLG2, POLG
6dgtp45 2410.8DGUOK, POLG
7ethidium bromide459.6COX5A, POLG
8parathion45 2410.5POLG, DGUOK
9nucleoside459.5POLG2, DGUOK, POLG
10diethyl dithiocarbamate459.5COX5A, POLG2, POLG
11zidovudine45 51 1111.5POLG, POLG2, COX5A
12didanosine45 51 1111.4COX5A, DGUOK, POLG
13thymidylate459.3DGUOK, POLG
14atp45 299.9COX5A, DGUOK, POLG2, POLG
15phosphoric acid45 249.9DARS2, POLG, FARS2
16pyrophosphate45 249.8DARS2, POLG, FARS2
17Adenosine triphosphate24 119.6DGUOK, FARS2, DARS2

GO Terms for genes affiliated with Alpers Syndrome

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16Gene Ontology
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Cellular components related to Alpers Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial nucleoidGO:0426458.9POLG2, POLG, C10orf2
2mitochondrial matrixGO:0057598.6DGUOK, FARS2, DARS2

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrial DNA replicationGO:0062649.5POLG, C10orf2
2DNA-dependent DNA replicationGO:0062619.4POLG2, POLG
3tRNA aminoacylation for protein translationGO:0064189.0FARS2, DARS2

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

idNameGO IDScoreTop Affiliating Genes
1DNA-directed DNA polymerase activityGO:0038879.7POLG, POLG2
2protease bindingGO:0020209.6C10orf2, POLG
3tRNA bindingGO:0000498.9FARS2, DARS2
4ATP bindingGO:0055247.8DGUOK, FARS2, C10orf2, DARS2

Products for genes affiliated with Alpers Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Alpers Syndrome

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet