MCID: MTC056
MIFTS: 37

Mitochondrial Dna Depletion Syndrome 4a malady

Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Liver diseases categories

Summaries for Mitochondrial Dna Depletion Syndrome 4a

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OMIM:45 Mitochondrial DNA depletion syndrome-4A, also known as Alpers syndrome, is an autosomal recessive disorder... (203700) more...

MalaCards based summary: Mitochondrial Dna Depletion Syndrome 4a, also known as alpers syndrome, is related to adrenoleukodystrophy and balo concentric sclerosis, and has symptoms including microcephaly, abnormality of the eye and seizures. An important gene associated with Mitochondrial Dna Depletion Syndrome 4a is POLG (polymerase (DNA directed), gamma). Affiliated tissues include liver, brain and eye.

Disease Ontology:9 A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has symptom convulsions.

NIH Rare Diseases:41 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:42 Alpers' disease is a progressive, neurodevelopmental, mitochondrial DNA depletion syndrome characterized by three co-occurring clinical symptoms: psychomotor regression (dementia); seizures; and liver disease.

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.

Aliases & Classifications for Mitochondrial Dna Depletion Syndrome 4a

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Sources:
45OMIM, 9Disease Ontology, 10diseasecard, 41NIH Rare Diseases, 21Genetics Home Reference, 11DISEASES, 43Novoseek, 47Orphanet, 60UMLS, 42NINDS, 22GTR, 20GeneTests, 33MeSH, 38NCIt, 55SNOMED-CT, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Mitochondrial Dna Depletion Syndrome 4a, Aliases & Descriptions:

Name: Mitochondrial Dna Depletion Syndrome 4a 45 9 10
Alpers Syndrome 9 41 21 11 43 47 60
Alpers-Huttenlocher Syndrome 9 41 20 21 47
Progressive Sclerosing Poliodystrophy 9 21 42 22
Alpers Progressive Infantile Poliodystrophy 9 41 21
Alpers Diffuse Degeneration of Cerebral Gray Matter with Hepatic Cirrhosis 41 21
Progressive Neuronal Degeneration of Childhood with Liver Disease 41 47
Alpers Progressive Sclerosing Poliodystrophy 41 47
Diffuse Cerebral Sclerosis of Schilder 21 60
Alpers' Disease 9 42
 
Alpers Disease 41 21
Neuronal Degeneration of Childhood with Liver Disease, Progressive 41
Diffuse Cerebral Degeneration in Infancy 41
Poliodystrophia Cerebri Progressiva 41
Progressive Cerebral Poliodystrophy 41
Infantile Poliodystrophy 41
Gray-Matter Degeneration 9
Alper's Syndrome 9
Pndc 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
alpers syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Adolescent,Adult,Childhood,Infancy,Neonatal


External Ids:

OMIM45 203700
Disease Ontology9 DOID:1442
MeSH33 D002549
NCIt38 C35257
SNOMED-CT55 20415001
Orphanet47 726
MESH via Orphanet34 D002549
ICD10 via Orphanet26 G31.8
UMLS via Orphanet61 C0205710

Related Diseases for Mitochondrial Dna Depletion Syndrome 4a

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Diseases related to Mitochondrial Dna Depletion Syndrome 4a via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 18)
idRelated DiseaseScoreTop Affiliating Genes
1adrenoleukodystrophy10.4
2balo concentric sclerosis10.4
3myelinoclastic diffuse sclerosis10.4
4mitochondrial encephalomyopathy10.4
5encephalomyopathy10.4
6hypotonia10.4
7hepatitis10.2
8neuronitis10.2
9relapsing-remitting multiple sclerosis10.2
10cerebritis10.2
11combined oxidative phosphorylation deficiency 1410.1
12creutzfeldt-jakob disease10.1
13autoimmune hepatitis10.1
14liver disease10.1
15status epilepticus10.1
16hypoglycemia10.1
17cerebral degeneration10.1
18cerebral folate deficiency10.1

Graphical network of diseases related to Mitochondrial Dna Depletion Syndrome 4a:



Diseases related to mitochondrial dna depletion syndrome 4a

Symptoms for Mitochondrial Dna Depletion Syndrome 4a

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Symptoms by clinical synopsis from OMIM:

203700

Clinical features from OMIM:

203700

Symptoms:

 47 9 (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

HPO human phenotypes related to Mitochondrial Dna Depletion Syndrome 4a:

(show all 41)
id Description Frequency HPO Source Accession
1 microcephaly typical (50%) HP:0000252
2 abnormality of the eye typical (50%) HP:0000478
3 seizures typical (50%) HP:0001250
4 muscular hypotonia typical (50%) HP:0001252
5 hypertonia typical (50%) HP:0001276
6 incoordination typical (50%) HP:0002311
7 hemiplegia/hemiparesis typical (50%) HP:0004374
8 abnormality of movement typical (50%) HP:0100022
9 cognitive impairment typical (50%) HP:0100543
10 autosomal recessive inheritance HP:0000007
11 visual loss HP:0000572
12 abnormality of vision evoked potentials HP:0000649
13 dementia HP:0000726
14 ataxia HP:0001251
15 muscular hypotonia HP:0001252
16 global developmental delay HP:0001263
17 cerebellar atrophy HP:0001272
18 hypertonia HP:0001276
19 myoclonus HP:0001336
20 hepatic failure HP:0001399
21 bile duct proliferation HP:0001408
22 micronodular cirrhosis HP:0001413
23 microvesicular hepatic steatosis HP:0001414
24 failure to thrive HP:0001508
25 vomiting HP:0002013
26 increased serum lactate HP:0002151
27 gliosis HP:0002171
28 hepatomegaly HP:0002240
29 developmental regression HP:0002376
30 astrocytosis HP:0002446
31 neuronal loss in central nervous system HP:0002529
32 elevated hepatic transaminases HP:0002910
33 increased csf protein HP:0002922
34 ethylmalonic aciduria HP:0003219
35 paralysis HP:0003470
36 3-methylglutaconic aciduria HP:0003535
37 infantile onset HP:0003593
38 rapidly progressive HP:0003678
39 cerebral cortical neurodegeneration HP:0006964
40 epilepsia partialis continua HP:0012847
41 cortical visual impairment HP:0100704

Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome 4a

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Drug clinical trials:

Search ClinicalTrials for Mitochondrial Dna Depletion Syndrome 4a

Search NIH Clinical Center for Mitochondrial Dna Depletion Syndrome 4a

Genetic Tests for Mitochondrial Dna Depletion Syndrome 4a

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Genetic tests related to Mitochondrial Dna Depletion Syndrome 4a:

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

Anatomical Context for Mitochondrial Dna Depletion Syndrome 4a

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MalaCards organs/tissues related to Mitochondrial Dna Depletion Syndrome 4a:

31
Liver, Brain, Eye

Animal Models for Mitochondrial Dna Depletion Syndrome 4a or affiliated genes

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Publications for Mitochondrial Dna Depletion Syndrome 4a

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Variations for Mitochondrial Dna Depletion Syndrome 4a

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UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Dna Depletion Syndrome 4a:

62 (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 Mitochondrial Dna Depletion Syndrome 4a:

6
id Gene Variation 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 Mitochondrial Dna Depletion Syndrome 4a

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Search GEO for disease gene expression data for Mitochondrial Dna Depletion Syndrome 4a.

Pathways for genes affiliated with Mitochondrial Dna Depletion Syndrome 4a

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Compounds for genes affiliated with Mitochondrial Dna Depletion Syndrome 4a

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GO Terms for genes affiliated with Mitochondrial Dna Depletion Syndrome 4a

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Products for genes affiliated with Mitochondrial Dna Depletion Syndrome 4a

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  • Antibodies
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  • Proteins
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Sources for Mitochondrial Dna Depletion Syndrome 4a

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet