MCID: MTC056
MIFTS: 49

Mitochondrial Dna Depletion Syndrome 4a

Categories: Genetic diseases, Rare diseases, Liver diseases, Neuronal diseases, Metabolic diseases

Aliases & Classifications for Mitochondrial Dna Depletion Syndrome 4a

MalaCards integrated aliases for Mitochondrial Dna Depletion Syndrome 4a:

Name: Mitochondrial Dna Depletion Syndrome 4a 53 12 12 71 13
Alpers Syndrome 53 12 49 24 55 71 36 51 14 69
Alpers-Huttenlocher Syndrome 53 12 49 24 55 71
Alpers Progressive Infantile Poliodystrophy 53 12 49 24 71
Alpers Diffuse Degeneration of Cerebral Gray Matter with Hepatic Cirrhosis 53 49 24 71
Progressive Sclerosing Poliodystrophy 12 24 50 28
Alpers Disease 72 49 24
Pndc 53 49 71
Neuronal Degeneration of Childhood with Liver Disease, Progressive 53 49
Diffuse Cerebral Sclerosis of Schilder 24 69
Mtdps4a 53 71
Neuronal Degeneration of Childhood with Liver Disease, Progressive; Pndc 53
Progressive Neuronal Degeneration of Childhood with Liver Disease 55
Neuronal Degeneration of Childhood with Liver Disease Progressive 71
Mitochondrial Dna Depletion Syndrome 4a Alpers Type 71
Alpers Progressive Sclerosing Poliodystrophy 55
Alpers' Disease or Gray-Matter Degeneration 12
Diffuse Cerebral Degeneration in Infancy 49
Poliodystrophia Cerebri Progressiva 49
Progressive Cerebral Poliodystrophy 49
Infantile Poliodystrophy 49
Alper's Syndrome 12
Alpers' Disease 50
Ahs 71

Characteristics:

Orphanet epidemiological data:

55
alpers-huttenlocher syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: adolescent,adult,late childhood,young Adult;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
rapidly progressive
onset in infancy after normal birth and neonatal period
death usually by age 3 years
later onset (late childhood to young adult) has been reported
increased sensitivity to valproic acid toxicity


HPO:

31
mitochondrial dna depletion syndrome 4a:
Onset and clinical course rapidly progressive infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mitochondrial Dna Depletion Syndrome 4a

NINDS : 50 Alpers' disease is a progressive, neurodevelopmental, mitochondrial DNA depletion syndrome characterized by three co-occurring clinical symptoms: psychomotor regression (dementia); seizures; and liver disease.  It is an autosomal recessive disease caused by mutation in the gene for the mitochondrial DNA polymerase POLG.  The disease occurs in about one in 100,000 persons.  Most individuals with Alpers' disease do not show symptoms at birth and develop normally for weeks to years before the onset of symptoms.  Diagnosis is established by testing for the POLG gene.  Symptoms typically occur months before tissue samples show the mitochondrial DNA depletion, so that these depletion studies cannot be used for early diagnosis.  About 80 percent of individuals with Alpers' disease develop symptoms in the first two years of life, and 20 percent develop symptoms between ages 2 and 25.  The first symptoms of the disorder are usually nonspecific and may include hypoglycemia secondary to underlying liver disease, failure to thrive, infection-associated encephalopathy, spasticity, myoclonus (involuntary jerking of a muscle or group of muscles), seizures, or liver failure.  An increased protein level is seen in cerebrospinal fluid analysis.  Cortical blindness (loss of vision due to damage to the area of the cortex that controls vision) develops in about 25 percent of cases. Gastrointestinal dysfunction and cardiomyopathy may occur.  Dementia is typically episodic and often associated with an infection that occurs while another disease is in process.  Seizures may be difficult to control and unrelenting seizures can cause developmental regression as well.  "Alpers-like" disorders  without liver disease are genetically different and have a different clinical course.  Fewer than one-third of individuals with the "Alpers-like" phenotype without liver disease have POLG mutations.

MalaCards based summary : Mitochondrial Dna Depletion Syndrome 4a, also known as alpers syndrome, is related to ah amyloidosis and adrenoleukodystrophy, and has symptoms including convulsions, ataxia and myoclonus. An important gene associated with Mitochondrial Dna Depletion Syndrome 4a is POLG (DNA Polymerase Gamma, Catalytic Subunit), and among its related pathways/superpathways is Mitochondrial Gene Expression. The drugs Methylprednisolone and Prednisolone have been mentioned in the context of this disorder. Affiliated tissues include liver, brain and cortex.

OMIM : 53 Mitochondrial DNA depletion syndrome-4A, also known as Alpers syndrome, is an autosomal recessive disorder characterized by a clinical triad of psychomotor retardation, intractable epilepsy, and liver failure in infants and young children. Pathologic findings include neuronal loss in the cerebral gray matter with reactive astrocytosis and liver cirrhosis. The disorder is progressive and often leads to death from hepatic failure or status epilepticus before age 3 years (review by Milone and Massie, 2010). Some affected individuals may show mild intermittent 3-methylglutaconic aciduria and defects in mitochondrial oxidative phosphorylation (Wortmann et al., 2009). For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (603041). Neuropathologic changes characteristic of Alpers syndrome, namely laminar cortical necrosis, may also be seen in some patients with combined oxidative phosphorylation deficiency-14 (COXPD14; 614946), caused by mutation in the FARS2 gene (611592), and COXPD24 (616239), caused by mutation in the NARS2 gene (612803). (203700)

UniProtKB/Swiss-Prot : 71 Mitochondrial DNA depletion syndrome 4A: An autosomal recessive hepatocerebral syndrome due to mitochondrial dysfunction. The typical course of the disease includes severe developmental delay, intractable seizures, liver failure, and death in childhood. Refractory seizures, cortical blindness, progressive liver dysfunction, and acute liver failure after exposure to valproic acid are considered diagnostic features. The neuropathological hallmarks are neuronal loss, spongiform degeneration, and astrocytosis of the visual cortex. Liver biopsy results show steatosis, often progressing to cirrhosis.

NIH Rare Diseases : 49 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

Genetics Home Reference : 24 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.

Disease Ontology : 12 A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has symptom convulsions.

Wikipedia : 72 Mitochondrial DNA depletion syndrome (MDS or MDDS) is any of a group of autosomal recessive disorders... more...

Related Diseases for Mitochondrial Dna Depletion Syndrome 4a

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

(show top 50) (show all 63)
# Related Disease Score Top Affiliating Genes
1 ah amyloidosis 12.1
2 adrenoleukodystrophy 11.5
3 tumefactive multiple sclerosis 11.5
4 sudanophilic cerebral sclerosis 11.3
5 pelizaeus-merzbacher disease 11.3
6 balo concentric sclerosis 11.3
7 myelinoclastic diffuse sclerosis 11.3
8 hypotrichosis 7 11.2
9 hemophilia 11.1
10 combined oxidative phosphorylation deficiency 24 11.1
11 atrial standstill 1 11.0
12 combined oxidative phosphorylation deficiency 14 10.9
13 hemochromatosis, type 1 10.9
14 aplastic anemia 10.9
15 hemolytic anemia 10.9
16 primary ciliary dyskinesia 10.9
17 atrial fibrillation 10.9
18 long qt syndrome 10.9
19 adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency 10.9
20 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 10.9
21 adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency 10.9
22 adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency 10.9
23 pulmonary fibrosis, idiopathic 10.8
24 polycythemia vera 10.8
25 abdominal obesity-metabolic syndrome 1 10.8
26 bronchopulmonary dysplasia 10.8
27 thrombocytopenia 10.8
28 sleep apnea 10.8
29 thrombotic thrombocytopenic purpura 10.8
30 thrombocytopenia due to platelet alloimmunization 10.8
31 pneumonia 10.8
32 lymphopenia 10.8
33 mitochondrial encephalomyopathy 10.2
34 encephalomyopathy 10.2
35 hypotonia 10.2
36 hepatitis 9.9
37 neuronitis 9.9
38 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 9.9 POLG TWNK
39 mitochondrial dna depletion syndrome 3 9.9 DGUOK TWNK
40 mitochondrial neurogastrointestinal encephalopathy disease 9.9 POLG TYMP
41 diabetic polyneuropathy 9.9 POLG TWNK
42 cerebral degeneration 9.8
43 cerebritis 9.8
44 mitochondrial dna depletion syndrome 1 9.8 POLG TYMP
45 mitochondrial neurogastrointestinal encephalomyopathy 9.8 POLG TYMP
46 creutzfeldt-jakob disease 9.8
47 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.8
48 autoimmune hepatitis 9.8
49 liver disease 9.8
50 status epilepticus 9.8

Graphical network of the top 20 diseases related to Mitochondrial Dna Depletion Syndrome 4a:



Diseases related to Mitochondrial Dna Depletion Syndrome 4a

Symptoms & Phenotypes for Mitochondrial Dna Depletion Syndrome 4a

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
ataxia
myoclonus
hypertonia
paralysis
dementia
more
Growth Other:
failure to thrive

Laboratory Abnormalities:
increased serum lactate
increased csf protein
elevated liver function tests
decreased dna polymerase-gamma (polg, ) activity
intermittent 3-methylglutaconic aciduria
more
Head And Neck Eyes:
loss of vision
visual disturbances
cortical blindness
abnormal visual evoked potential (vep)

Abdomen Gastroin testinal:
vomiting

Abdomen Liver:
hepatomegaly
micronodular cirrhosis
liver failure
biopsy shows microvesicular steatosis
hepatocyte dropout
more
Muscle Soft Tissue:
hypotonia
decreased mitochondrial respiratory chain complex activity
mitochondrial dna depletion


Clinical features from OMIM:

203700

Symptoms:

12
  • convulsions

Human phenotypes related to Mitochondrial Dna Depletion Syndrome 4a:

55 31 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 55 31 frequent (33%) Frequent (79-30%) HP:0001251
2 myoclonus 55 31 frequent (33%) Frequent (79-30%) HP:0001336
3 muscular hypotonia 55 31 frequent (33%) Frequent (79-30%) HP:0001252
4 developmental regression 55 31 frequent (33%) Frequent (79-30%) HP:0002376
5 global developmental delay 55 31 frequent (33%) Frequent (79-30%) HP:0001263
6 microcephaly 55 31 frequent (33%) Frequent (79-30%) HP:0000252
7 blindness 55 31 occasional (7.5%) Occasional (29-5%) HP:0000618
8 generalized tonic-clonic seizures 55 31 frequent (33%) Frequent (79-30%) HP:0002069
9 coma 55 31 frequent (33%) Frequent (79-30%) HP:0001259
10 areflexia 55 31 frequent (33%) Frequent (79-30%) HP:0001284
11 focal seizures 55 31 frequent (33%) Frequent (79-30%) HP:0007359
12 progressive spasticity 55 31 frequent (33%) Frequent (79-30%) HP:0002191
13 choreoathetosis 55 31 frequent (33%) Frequent (79-30%) HP:0001266
14 spastic paraparesis 55 31 frequent (33%) Frequent (79-30%) HP:0002313
15 vomiting 31 HP:0002013
16 paraparesis 55 Frequent (79-30%)
17 spasticity 55 Frequent (79-30%)
18 failure to thrive 31 HP:0001508
19 hepatomegaly 31 HP:0002240
20 abnormality of visual evoked potentials 31 HP:0000649
21 hypertonia 31 HP:0001276
22 abnormality of the eye 55 Frequent (79-30%)
23 abnormality of vision 55 Frequent (79-30%)
24 abnormality of movement 55 Frequent (79-30%)
25 elevated hepatic transaminases 31 HP:0002910
26 increased serum lactate 31 HP:0002151
27 visual loss 31 HP:0000572
28 paralysis 31 HP:0003470
29 dementia 31 HP:0000726
30 hepatic failure 31 HP:0001399
31 cerebellar atrophy 31 HP:0001272
32 astrocytosis 31 HP:0002446
33 generalized hypotonia 31 HP:0001290
34 increased csf protein 31 HP:0002922
35 neuronal loss in central nervous system 31 HP:0002529
36 gliosis 31 HP:0002171
37 cortical visual impairment 31 HP:0100704
38 microvesicular hepatic steatosis 31 HP:0001414
39 3-methylglutaconic aciduria 31 HP:0003535
40 micronodular cirrhosis 31 HP:0001413
41 ethylmalonic aciduria 31 HP:0003219
42 bile duct proliferation 31 HP:0001408
43 epilepsia partialis continua 31 HP:0012847
44 cerebral cortical neurodegeneration 31 HP:0006964

UMLS symptoms related to Mitochondrial Dna Depletion Syndrome 4a:


unspecified visual loss, visual disturbance, vomiting, myoclonus, ataxia

Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome 4a

Drugs for Mitochondrial Dna Depletion Syndrome 4a (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
2
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
3 Antiemetics Phase 3
4 Anti-Inflammatory Agents Phase 3
5 Autonomic Agents Phase 3
6 Gastrointestinal Agents Phase 3
7 glucocorticoids Phase 3
8 Hormone Antagonists Phase 3
9 Hormones Phase 3
10 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
11 Methylprednisolone acetate Phase 3
12 Methylprednisolone Hemisuccinate Phase 3
13 Neuroprotective Agents Phase 3
14 Peripheral Nervous System Agents Phase 3
15 Prednisolone acetate Phase 3
16 Prednisolone hemisuccinate Phase 3
17 Prednisolone phosphate Phase 3
18 Protective Agents Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase III Randomized, Double-Blind, Sham-Controlled Study of Plasma Exchange for Acute Severe Attacks of Inflammatory Demyelinating Disease Refractory to Intravenous Methylprednisolone Unknown status NCT00004645 Phase 3
2 Alpers Huttenlocher Natural History Study Recruiting NCT03034512
3 Combination of Multiparametric MRI and Electrophysiology for the Development of New Biomarkers in Spinal Cord Diseases Recruiting NCT02885870 Not Applicable
4 Prehospital Resuscitation Intranasal Cooling Effects Seen in MRI of the Brain After Cardiac Arrest Terminated NCT02179060

Search NIH Clinical Center for Mitochondrial Dna Depletion Syndrome 4a

Genetic Tests for Mitochondrial Dna Depletion Syndrome 4a

Genetic tests related to Mitochondrial Dna Depletion Syndrome 4a:

# Genetic test Affiliating Genes
1 Progressive Sclerosing Poliodystrophy 28 POLG

Anatomical Context for Mitochondrial Dna Depletion Syndrome 4a

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

38
Liver, Brain, Cortex, Testes, Eye

Publications for Mitochondrial Dna Depletion Syndrome 4a

Articles related to Mitochondrial Dna Depletion Syndrome 4a:

(show all 34)
# Title Authors Year
1
Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome. ( 25629079 )
2015
2
Valproic acid-induced hepatotoxicity in alpers syndrome is associated with mitochondrial permeability transition pore opening-dependent apoptotic sensitivity in an induced pluripotent stem cell model. ( 25605636 )
2015
3
Abnormalities in Glycogen Metabolism in a Patient with Alpers' Syndrome Presenting with Hypoglycemia. ( 24272679 )
2013
4
Alpers syndrome: the natural history of a case highlighting neuroimaging, neuropathology, and fat metabolism. ( 22114215 )
2012
5
Phenotypic and genotypic variability in Alpers syndrome. ( 22237560 )
2012
6
Alpers syndrome: an unusual etiology of failure to thrive. ( 22849523 )
2012
7
Complete Deletion of a POLG1 Allele in a Patient with Alpers Syndrome. ( 23430898 )
2012
8
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
9
Application of oligonucleotide array CGH in the detection of a large intragenic deletion in POLG associated with Alpers Syndrome. ( 20708716 )
2011
10
POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome. ( 20691285 )
2011
11
Gender variability in presentation with Alpers' syndrome: a report of eight patients from the UAE. ( 21305355 )
2011
12
Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome. ( 21235791 )
2011
13
Alpers syndrome with mutations in POLG: clinical and investigative features. ( 22000311 )
2011
14
Juvenile-onset Alpers syndrome: interpreting MRI findings. ( 20385895 )
2010
15
Alpers syndrome presenting with anatomopathological features of fulminant autoimmune hepatitis. ( 20582478 )
2010
16
De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome. ( 19501198 )
2009
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
Rapidly progressive neurological deterioration in a child with Alpers syndrome exhibiting a previously unremarkable brain MRI. ( 18991199 )
2008
19
Alpers syndrome with prominent white matter changes. ( 17923349 )
2008
20
Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus. ( 18294203 )
2008
21
Alpers syndrome: progressive neuronal degeneration of children with liver disease. ( 17109792 )
2006
22
Molecular diagnosis of Alpers syndrome. ( 16545482 )
2006
23
POLG mutations associated with Alpers syndrome and mitochondrial DNA depletion. ( 16130100 )
2005
24
Mono-allelic POLG expression resulting from nonsense-mediated decay and alternative splicing in a patient with Alpers syndrome. ( 16181814 )
2005
25
POLG mutations in Alpers syndrome. ( 16177225 )
2005
26
POLG mutations and Alpers syndrome. ( 15929042 )
2005
27
Is variant Creutzfeldt-Jakob disease in young children misdiagnosed as Alpers' syndrome? An analysis of a national surveillance study. ( 15146014 )
2004
28
Mitochondrial DNA depletion in Alpers syndrome. ( 15328560 )
2004
29
POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. ( 15122711 )
2004
30
Respiratory chain deficiency in Alpers syndrome. ( 11521212 )
2001
31
Mitochondrial DNA polymerase gamma deficiency and mtDNA depletion in a child with Alpers' syndrome. ( 9894877 )
1999
32
Brain MR imaging findings in two patients with Alpers' syndrome. ( 8959359 )
1996
33
Alpers' syndrome presenting with seizures and multiple stroke-like episodes in a 17-year-old male. ( 8605737 )
1995
34
Progressive neuronal degeneration of childhood (Alpers syndrome) with hepatic cirrhosis. ( 8444257 )
1993

Variations for Mitochondrial Dna Depletion Syndrome 4a

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

71 (show all 17)
# Symbol AA change Variation ID SNP ID
1 POLG p.Ala467Thr VAR_012155 rs113994095
2 POLG p.Thr251Ile VAR_023664 rs113994094
3 POLG p.Pro587Leu VAR_023671 rs113994096
4 POLG p.Trp748Ser VAR_023673 rs113994097
5 POLG p.Gly848Ser VAR_023675 rs113994098
6 POLG p.Arg232Gly VAR_058870
7 POLG p.Leu244Pro VAR_058872
8 POLG p.Ala767Asp VAR_058886
9 POLG p.Gln879His VAR_058890
10 POLG p.Thr885Ser VAR_058891
11 POLG p.Thr914Pro VAR_058892 rs139590686
12 POLG p.Ala957Pro VAR_058893
13 POLG p.Arg1096His VAR_058894 rs368435864
14 POLG p.His1110Tyr VAR_058895
15 POLG p.His1134Arg VAR_058896
16 POLG p.Lys1191Asn VAR_058898
17 POLG p.Glu1136Lys VAR_065092 rs56047213

ClinVar genetic disease variations for Mitochondrial Dna Depletion Syndrome 4a:

6 (show all 11)
# Gene Variation Type Significance SNP ID Assembly Location
1 POLG NM_002693.2(POLG): c.1399G> A (p.Ala467Thr) single nucleotide variant Pathogenic/Likely pathogenic rs113994095 GRCh37 Chromosome 15, 89870432: 89870432
2 POLG NM_002693.2(POLG): c.2542G> A (p.Gly848Ser) single nucleotide variant Pathogenic rs113994098 GRCh37 Chromosome 15, 89865023: 89865023
3 POLG NM_002693.2(POLG): c.2617G> T (p.Glu873Ter) single nucleotide variant Pathogenic rs121918047 GRCh37 Chromosome 15, 89864473: 89864473
4 POLG POLG, TRP1020TER undetermined variant Pathogenic
5 POLG NM_002693.2(POLG): c.679C> T (p.Arg227Trp) single nucleotide variant Pathogenic rs121918056 GRCh37 Chromosome 15, 89873488: 89873488
6 POLG NM_002693.2(POLG): c.3218C> T (p.Pro1073Leu) single nucleotide variant Pathogenic rs267606959 GRCh37 Chromosome 15, 89862217: 89862217
7 POLG NM_002693.2(POLG): c.3287G> A (p.Arg1096His) single nucleotide variant Pathogenic/Likely pathogenic rs368435864 GRCh37 Chromosome 15, 89861967: 89861967
8 POLG NM_002693.2(POLG): c.2870C> T (p.Ala957Val) single nucleotide variant Pathogenic/Likely pathogenic rs753160398 GRCh37 Chromosome 15, 89864108: 89864108
9 POLG NM_002693.2(POLG): c.3612_3613insAACT (p.Gly1205Asnfs) insertion Pathogenic rs886043241 GRCh37 Chromosome 15, 89860637: 89860638
10 POLG NM_002693.2(POLG): c.3155dup (p.Thr1053Hisfs) duplication Pathogenic GRCh38 Chromosome 15, 89319049: 89319049
11 POLG NM_002693.2(POLG): c.3091_3092delGA (p.Glu1031Asnfs) deletion Pathogenic GRCh37 Chromosome 15, 89862471: 89862472

Expression for Mitochondrial Dna Depletion Syndrome 4a

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

Pathways for Mitochondrial Dna Depletion Syndrome 4a

Pathways related to Mitochondrial Dna Depletion Syndrome 4a according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.76 POLG2 TWNK

GO Terms for Mitochondrial Dna Depletion Syndrome 4a

Cellular components related to Mitochondrial Dna Depletion Syndrome 4a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.55 DGUOK FARS2 POLG POLG2 TWNK
2 mitochondrial matrix GO:0005759 9.26 DGUOK FARS2 POLG2 TWNK
3 mitochondrial nucleoid GO:0042645 8.8 POLG POLG2 TWNK

Biological processes related to Mitochondrial Dna Depletion Syndrome 4a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion organization GO:0007005 9.37 POLG2 TWNK
2 cellular response to glucose stimulus GO:0071333 9.32 POLG TWNK
3 DNA biosynthetic process GO:0071897 9.26 POLG POLG2
4 DNA-dependent DNA replication GO:0006261 9.16 POLG POLG2
5 DNA replication GO:0006260 9.13 POLG POLG2 TWNK
6 mitochondrial DNA replication GO:0006264 8.62 POLG TWNK

Molecular functions related to Mitochondrial Dna Depletion Syndrome 4a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.56 DGUOK POLG POLG2 TYMP
2 protease binding GO:0002020 9.16 POLG TWNK
3 nucleotidyltransferase activity GO:0016779 8.96 POLG POLG2
4 DNA-directed DNA polymerase activity GO:0003887 8.62 POLG POLG2

Sources for Mitochondrial Dna Depletion Syndrome 4a

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16 ExPASy
18 FMA
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