MTDPS4A
MCID: MTC056
MIFTS: 48

Mitochondrial Dna Depletion Syndrome 4a (MTDPS4A) malady

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

Aliases & Classifications for Mitochondrial Dna Depletion Syndrome 4a

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 49NINDS, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Mitochondrial Dna Depletion Syndrome 4a:

Name: Mitochondrial Dna Depletion Syndrome 4a 52 11 70 12
Alpers Syndrome 11 48 24 25 54 70 50 13 68
Alpers-Huttenlocher Syndrome 11 48 24 25 54 70
Alpers Progressive Infantile Poliodystrophy 11 48 24 25 70
Progressive Sclerosing Poliodystrophy 11 25 49 27
Alpers Diffuse Degeneration of Cerebral Gray Matter with Hepatic Cirrhosis 48 25 70
Progressive Neuronal Degeneration of Childhood with Liver Disease 24 54
Diffuse Cerebral Sclerosis of Schilder 25 68
Alpers Disease 48 25
Pndc 48 70
Neuronal Degeneration of Childhood with Liver Disease, Progressive 48
Neuronal Degeneration of Childhood with Liver Disease Progressive 70
 
Mitochondrial Dna Depletion Syndrome 4a Alpers Type 70
Alpers Progressive Sclerosing Poliodystrophy 54
Alpers' Disease or Gray-Matter Degeneration 11
Diffuse Cerebral Degeneration in Infancy 48
Progressive Cerebral Poliodystrophy 48
Poliodystrophia Cerebri Progressiva 48
Infantile Poliodystrophy 48
Alper's Syndrome 11
Alpers' Disease 49
Mtdps4a 70
Ahs 70

Characteristics:

Orphanet epidemiological data:

54
alpers 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

HPO:

64
mitochondrial dna depletion syndrome 4a:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset, rapidly progressive

Classifications:



External Ids:

OMIM52 203700
Disease Ontology11 DOID:0080122, DOID:1442
ICD1030 G31.81
MeSH39 D002549
NCIt45 C35257
SNOMED-CT62 20415001
Orphanet54 ORPHA726
ICD10 via Orphanet31 G31.8
MESH via Orphanet40 D002549
UMLS via Orphanet69 C0205710
MedGen37 C0205710

Summaries for Mitochondrial Dna Depletion Syndrome 4a

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NINDS:49 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 ataxia, 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 is tRNA Aminoacylation. Affiliated tissues include liver, cortex and testes.

Disease Ontology:11 A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has symptom convulsions.

Genetics Home Reference:25 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.

NIH Rare Diseases:48 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

OMIM:52 Mitochondrial DNA depletion syndrome-4A, also known as Alpers syndrome, is an autosomal recessive disorder... (203700) more...

UniProtKB/Swiss-Prot:70 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.

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 41)
idRelated DiseaseScoreTop Affiliating Genes
1ah amyloidosis11.9
2adrenoleukodystrophy11.3
3tumefactive multiple sclerosis11.3
4pelizaeus-merzbacher disease11.2
5sudanophilic cerebral sclerosis11.2
6balo concentric sclerosis11.2
7myelinoclastic diffuse sclerosis11.2
8combined oxidative phosphorylation deficiency 2411.0
9hypotrichosis 711.0
10mitochondrial dna depletion syndrome 110.9
11combined oxidative phosphorylation deficiency 1410.8
123-beta-hydroxysteroid dehydrogenase, type ii, deficiency10.7
13adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency10.7
14adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency10.7
1517-alpha-hydroxylase/17,20-lyase deficiency10.7
16breast cancer10.1
17mitochondrial encephalomyopathy10.1
18encephalomyopathy10.1
19hypotonia10.1
20bbs2-related bardet-biedl syndrome10.0POLG, POLG2
21nonsyndromic 46,xx testicular disorders of sex development10.0POLG, TYMP
22megalencephalic leukoencephalopathy with subcortical cysts10.0POLG, TYMP
23idiopathic dropped head syndrome10.0POLG, TYMP
24mental retardation with spastic paraplegia10.0POLG, TYMP
25chronic lacrimal gland enlargement9.9POLG, TYMP
26dyscalculia9.8POLG, POLG2, TYMP
27pontocerebellar hypoplasia9.8POLG, TYMP
28growth hormone deficiency, isolated partial9.8DARS2, POLG, TYMP
29hepatitis9.8
30neuronitis9.8
31cerebral degeneration9.8
32cerebritis9.8
33creutzfeldt-jakob disease9.7
34autoimmune hepatitis9.7
35liver disease9.7
36status epilepticus9.7
37hypoglycemia9.7
38encephalopathy9.7
39nkx2-1-related disorders9.7DGUOK, POLG, POLG2, TYMP
40myoclonic epilepsy associated with ragged-red fibers9.5DARS2, FARS2, POLG, TYMP
41deafness, autosomal dominant 309.2DARS2, DGUOK, FARS2, POLG, POLG2, TYMP

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

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Symptoms by clinical synopsis from OMIM:

203700

Clinical features from OMIM:

203700

Symptoms:

 11
  • convulsions

Human phenotypes related to Mitochondrial Dna Depletion Syndrome 4a:

 54 64 (show all 43)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly64 54 Frequent (79-30%) HP:0000252
2 abnormality of the eye54 Frequent (79-30%)
3 abnormality of vision54 Frequent (79-30%)
4 blindness64 54 Occasional (29-5%) HP:0000618
5 ataxia64 54 Frequent (79-30%) HP:0001251
6 muscular hypotonia64 54 Frequent (79-30%) HP:0001252
7 spasticity54 Frequent (79-30%)
8 coma64 54 Frequent (79-30%) HP:0001259
9 global developmental delay64 54 Frequent (79-30%) HP:0001263
10 choreoathetosis64 54 Frequent (79-30%) HP:0001266
11 areflexia64 54 Frequent (79-30%) HP:0001284
12 myoclonus64 54 Frequent (79-30%) HP:0001336
13 generalized tonic-clonic seizures64 54 Frequent (79-30%) HP:0002069
14 progressive spasticity64 54 Frequent (79-30%) HP:0002191
15 spastic paraparesis64 54 Frequent (79-30%) HP:0002313
16 developmental regression64 54 Frequent (79-30%) HP:0002376
17 paraparesis54 Frequent (79-30%)
18 focal seizures64 54 Frequent (79-30%) HP:0007359
19 abnormality of movement54 Frequent (79-30%)
20 visual loss64 HP:0000572
21 abnormality of visual evoked potentials64 HP:0000649
22 dementia64 HP:0000726
23 cerebellar atrophy64 HP:0001272
24 hypertonia64 HP:0001276
25 hepatic failure64 HP:0001399
26 bile duct proliferation64 HP:0001408
27 micronodular cirrhosis64 HP:0001413
28 microvesicular hepatic steatosis64 HP:0001414
29 failure to thrive64 HP:0001508
30 vomiting64 HP:0002013
31 increased serum lactate64 HP:0002151
32 gliosis64 HP:0002171
33 hepatomegaly64 HP:0002240
34 astrocytosis64 HP:0002446
35 neuronal loss in central nervous system64 HP:0002529
36 elevated hepatic transaminases64 HP:0002910
37 increased csf protein64 HP:0002922
38 ethylmalonic aciduria64 HP:0003219
39 paralysis64 HP:0003470
40 3-methylglutaconic aciduria64 HP:0003535
41 cerebral cortical neurodegeneration64 HP:0006964
42 epilepsia partialis continua64 HP:0012847
43 cortical visual impairment64 HP:0100704

UMLS symptoms related to Mitochondrial Dna Depletion Syndrome 4a:


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

Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome 4a

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

(show all 18)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Prednisoloneapproved, vet_approvedPhase 3119350-24-85755
Synonyms:
(11beta)-11,17,21-Trihydroxypregna-1,4-diene-3,20-dione
.DELTA.1-Cortisol
.DELTA.1-Dehydrocortisol
.DELTA.1-Dehydrohydrocortisone
.DELTA.1-Hydrocortisone
.delta.-Cortef
.delta.-Stab
1,2-Dehydrohydrocortisone
1,4-Pregnadiene-11beta,17alpha,21-triol-3,20-dione
1,4-Pregnadiene-3,20-dione-11beta,17alpha,21-triol
1-Dehydrocortisol
1-Dehydrohydrocortisone
3,20-dioxo-11beta,17alpha,21-Trihydroxy-1,4-pregnadiene
46656_FLUKA
46656_RIEDEL
50-24-8
58201-11-9
8056-11-9
AC-1773
AC1L1L2E
Ak-Pred
Ak-Tate
Alphadrol
Articulose-50
BPBio1_000164
BRD-K98039984-001-03-0
BRN 1354103
BSPBio_000148
Bio-0666
Bubbli-Pred
C07369
CCRIS 980
CHEBI:8378
CHEMBL131
CID5755
CO-Hydeltra
CPD000718761
Co-Hydeltra
Codelcortone
Cordrol
Cortalone
Cotogesic
Cotolone
D00472
D011239
DB00860
Decaprednil
Decortin H
Delcortol
Delta F
Delta(1)-dehydrohydrocortisone
Delta-Cortef
Delta-Cortef (TN)
Delta-Ef-Cortelan
Delta-Stab
Delta-stab
Deltacortenol
Deltacortril
Deltacortril Enteric
Deltahydrocortisone
Deltasolone
Deltisilone
Depo-Medrol
Derpo PD
Derpo Pd
Dexa-Cortidelt Hostacortin H
Dexa-Cortidelt hostacortin H
Di Adreson F
Di-Adreson F
Di-Adreson-F
Di-adreson F
DiAdresonF
Dicortol
Donisolone
Dydeltrone
EINECS 200-021-7
Eazolin D
Econopred
Econopred Plus
Erbacort
Erbasona
Estilsona
Fernisolone
Fernisolone P
Fernisolone-P
Flamasone
HMS1568H10
HMS2090J05
HSDB 3385
Hostacortin H
Hydeltra
Hydeltra-Tba
Hydeltrasol
Hydeltrone
Hydrodeltalone
Hydrodeltisone
Hydroretrocortin
Hydroretrocortine
I-Pred
Inflamase Forte
Inflamase Mild
K 1557
Key-Pred
Klismacort
LMST02030179
LS-7669
Lentosone
Lite Pred
M-Predrol
 
MLS001304083
MLS002154250
MLS002207037
Medrol
Medrol Acetate
Metacortandralone
Methylprednisolone Acetate
Meti-Derm
Meticortelone
Metreton
MolPort-002-507-147
NCGC00179649-01
NSC 9120
NSC9120
NSC9900
Neo-Delta-Cortef
Nisolone
Nor-Pred T.B.A.
Ocu-Pred
Ocu-Pred Forte
Ophtho-Tate
Orapred
P0152_SIGMA
P0637
P6004_SIGMA
PRDL
PRED-G
Panafcortelone
Paracortol
Paracotol
Pediapred
Poly-Pred
Precortalon
Precortancyl
Precortilon
Precortisyl
Pred Forte
Pred Mild
Predair
Predair A
Predair Forte
Predalone 50
Predalone T.B.A.
Predate
Predate Tba
Predate-50
Predcor-25
Predcor-50
Predcor-Tba
Predisolone Sodium Phosphate
Predne-Dome
Prednelan
Predni-Dome
Prednicen
Predniliderm
Predniretard
Prednis
Prednisolona
Prednisolona [INN-Spanish]
Prednisolone (JP15/USP/INN)
Prednisolone (anhydrous)
Prednisolone Acetate
Prednisolone Sodium Phosphate
Prednisolone Tebutate
Prednisolone [INN:BAN:JAN]
Prednisolonum
Prednisolonum [INN-Latin]
Predonin
Predonine
Prelone
Prenolone
Prestwick0_000274
Prestwick1_000274
Prestwick2_000274
Prestwick3_000274
Prestwick_404
Rolisone
S1737_Selleck
SAM002264639
SMR000718761
SPBio_002367
Scherisolon
Solone
Steran
Sterane
Sterolone
Supercortisol
UNII-9PHQ9Y1OLM
Ulacort
Ultra Pred
Ultracorten H
Ultracortene H
Ultracortene-H
Ultracortene-Hydrogen
Ultracortene-hydrogen
ZINC03833821
component of Ataraxoid
component of K-Predne-Dome
delta(1)-Cortisol
delta(1)-Dehydrocortisol
delta(1)-Dehydrohydrocortisone
delta(1)-Hydrocortisone
delta(sup 1)-Cortisol
delta(sup 1)-Dehydrocortisol
delta(sup 1)-Dehydrohydrocortisone
delta(sup 1)-Hydrocortisone
delta-dehydrocortisol
delta-dehydrohydrocortisone
delta-hydrocortisone
prednisolone
2
Methylprednisoloneapproved, vet_approvedPhase 3119383-43-26741
Synonyms:
(6S,8S,9S,10R,11S,13S,14S,17R)-11,17-dihydroxy-17-(2-hydroxyacetyl)-6,10,13-trimethyl-7,8,9,11,12,14,15,16-octahydro-6H-cyclopenta[a]phenanthren-3-one
(6a,11b)-11,17,21-Trihydroxy-6-methylpregna-1,4-diene-3,20-dione
(6alpha,11beta)-11,17,21-Trihydroxy-6-methylpregna-1,4-diene-3,20-dione
(6α,11β)-11,17,21-trihydroxy-6-methylpregna-1,4-diene-3,20-dione
.DELTA.1-6.alpha.-Methylhydrocortisone
1-Dehydro-6alpha-methylhydrocortisone
1-dehydro-6alpha-Methylhydrocortisone
1-dehydro-6α-methylhydrocortisone
11-beta,17,21-Trihydroxy-6-alpha-methylpregna-1,4-diene-3,20-dione
11beta,17,21-Trihydroxy-6alpha-methylpregna-1,4-diene-3,20-dione
11beta,17alpha,21-Trihydroxy-6alpha-methyl-1,4-pregnadiene-3,20-dione
11beta,17alpha,21-Trihydroxy-6alpha-methylpregna-1,4-diene-3,20-dione
121673-01-6
4-08-00-03498 (Beilstein Handbook Reference)
46436_FLUKA
46436_RIEDEL
570-35-4
6 Methylprednisolone
6-Methylprednisolone
6-alpha-Methylprednisolone
6.alpha.-Methylprednisolone
6923-42-8
6alpha-Methyl-11beta,17alpha,21-trihydroxy-1,4-pregnadiene-3,20-dione
6alpha-Methyl-11beta,17alpha,21-triol-1,4-pregnadiene-3,20-dione
6alpha-Methylprednisolone
6alpha-methyl-11beta,17alpha,21-triol-1,4-pregnadiene-3,20-dione
83-43-2
AC1L1N7A
Artisone-Wyeth
Artisone-wyeth
BPBio1_000174
BRD-K35240538-001-03-1
BRN 2340300
BSPBio_000158
Besonia
Bio-0658
CHEBI:6888
CHEMBL650
CID6741
CPD000058330
D00407
D008775
DB00959
Depo-Medrol (acetate)
Dopomedrol
EINECS 201-476-4
Esametone
Firmacort
HMS1568H20
HMS2090B13
HSDB 3127
LMST02030178
LS-118498
Lemod
M0639_SIGMA
M1665
MEPRDL
MLS000028541
MLS001148159
MLS002207191
Medesone
Medixon
Medlone 21
 
Medrate
Medrol
Medrol (TN)
Medrol Adt Pak
Medrol Dosepak
Medrol adt pak
Medrol dosepak
Medrol, Solu-Medrol, Medrone, Methylprednisolone
Medrone
Mesopren
Metastab
Methyleneprednisolone
Methylprednisolon
Methylprednisolone
Methylprednisolone (JP15/USP/INN)
Methylprednisolone [USAN:INN:BAN:JAN]
Methylprednisolone, 6-alpha
Methylprednisolonum
Methylprednisolonum [INN-Latin]
Metilbetasone
Metilprednisolona
Metilprednisolona [INN-Spanish]
Metilprednisolone
Metilprednisolone [DCIT]
Metilprednisolone [Dcit]
Metipred
Metrisone
Metrocort
Metysolon
Moderin
MolPort-002-528-554
NCGC00022735-03
NCI60_001657
NSC-19987
NSC19987
Nirypan
Noretona
Predni N Tablinen
Prednol- L
Pregna-1,4-diene-3,20-dione, 11beta,17,21-trihydroxy-6alpha-methyl- (8CI)
Prestwick0_000279
Prestwick1_000279
Prestwick2_000279
Prestwick3_000279
Prestwick_622
Promacortine
Reactenol
S1733_Selleck
SAM002589984
SMR000058330
SPBio_002377
Sieropresol
Solomet
Summicort
Suprametil
U 7532
UNII-X4W7ZR7023
Urbason
Urbasone
Wyacort
ZINC03875560
delta(1)-6alpha-Methylhydrocortisone
delta(sup 1)-6-alpha-Methylhydrocortisone
methylprednisolone
methylprenisolone
3Anti-Inflammatory AgentsPhase 310729
4Peripheral Nervous System AgentsPhase 323689
5Neuroprotective AgentsPhase 31716
6Prednisolone acetatePhase 31193
7Prednisolone hemisuccinatePhase 31193
8Protective AgentsPhase 37443
9Prednisolone phosphatePhase 31193
10Methylprednisolone HemisuccinatePhase 31193
11Methylprednisolone acetatePhase 31193
12glucocorticoidsPhase 35103
13Gastrointestinal AgentsPhase 38402
14Hormone AntagonistsPhase 313180
15HormonesPhase 314415
16AntiemeticsPhase 34022
17Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 313168
18Autonomic AgentsPhase 310150

Interventional clinical trials:

idNameStatusNCT IDPhase
1Phase III Randomized, Double-Blind, Sham-Controlled Study of Plasma Exchange for Acute Severe Attacks of Inflammatory Demyelinating Disease Refractory to Intravenous MethylprednisoloneUnknown statusNCT00004645Phase 3
2Alpers Huttenlocher Natural History StudyRecruitingNCT03034512
3Combination of Multiparametric MRI and Electrophysiology for the Development of New Biomarkers in Spinal Cord DiseasesRecruitingNCT02885870
4North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)RecruitingNCT01694940
5Prehospital Resuscitation Intranasal Cooling Effects Seen in MRI of the Brain After Cardiac ArrestActive, not recruitingNCT02179060

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 Progressive Sclerosing Poliodystrophy27
2 Alpers-Huttenlocher Syndrome24 POLG

Anatomical Context for Mitochondrial Dna Depletion Syndrome 4a

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

36
Liver, Cortex, Testes, Brain, Eye

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:

70 (show all 17)
id Symbol AA change Variation ID SNP ID
1POLGp.Ala467ThrVAR_012155rs113994095
2POLGp.Thr251IleVAR_023664rs113994094
3POLGp.Pro587LeuVAR_023671rs113994096
4POLGp.Trp748SerVAR_023673rs113994097
5POLGp.Gly848SerVAR_023675rs113994098
6POLGp.Arg232GlyVAR_058870
7POLGp.Leu244ProVAR_058872
8POLGp.Ala767AspVAR_058886
9POLGp.Gln879HisVAR_058890
10POLGp.Thr885SerVAR_058891
11POLGp.Thr914ProVAR_058892rs139590686
12POLGp.Ala957ProVAR_058893
13POLGp.Arg1096HisVAR_058894rs368435864
14POLGp.His1110TyrVAR_058895
15POLGp.His1134ArgVAR_058896
16POLGp.Lys1191AsnVAR_058898
17POLGp.Glu1136LysVAR_065092rs56047213

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1POLGNM_ 002693.2(POLG): c.1399G> A (p.Ala467Thr)SNVPathogenic/ Likely pathogenicrs113994095GRCh37Chr 15, 89870432: 89870432
2POLGNM_ 002693.2(POLG): c.2542G> A (p.Gly848Ser)SNVPathogenicrs113994098GRCh37Chr 15, 89865023: 89865023
3POLGNM_ 002693.2(POLG): c.2617G> T (p.Glu873Ter)SNVPathogenicrs121918047GRCh37Chr 15, 89864473: 89864473
4POLGPOLG, TRP1020TERundetermined variantPathogenic
5POLGNM_ 002693.2(POLG): c.3218C> T (p.Pro1073Leu)SNVPathogenicrs267606959GRCh37Chr 15, 89862217: 89862217
6POLGNM_ 002693.2(POLG): c.2243G> C (p.Trp748Ser)SNV, Phase unknownPathogenicrs113994097GRCh37Chr 15, 89866657: 89866657
7POLGNM_ 002693.2(POLG): c.2870C> T (p.Ala957Val)SNVPathogenic/ Likely pathogenicrs753160398GRCh37Chr 15, 89864108: 89864108
8POLGNM_ 002693.2(POLG): c.3612_ 3613insAACT (p.Gly1205Asnfs)insertionPathogenicrs886043241GRCh37Chr 15, 89860637: 89860638

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

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1DARS2, FARS2

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

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrial nucleoidGO:004264510.3POLG, POLG2
2mitochondrial matrixGO:00057598.9DARS2, DGUOK, FARS2, POLG2
3mitochondrionGO:00057397.7DARS2, DGUOK, FARS2, POLG, POLG2

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

idNameGO IDScoreTop Affiliating Genes
1DNA biosynthetic processGO:007189710.2POLG, POLG2
2DNA replicationGO:000626010.1POLG, POLG2
3DNA-dependent DNA replicationGO:000626110.1POLG, POLG2
4tRNA aminoacylationGO:00430399.6DARS2, FARS2
5tRNA aminoacylation for protein translationGO:00064189.1DARS2, FARS2

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

idNameGO IDScoreTop Affiliating Genes
1DNA-directed DNA polymerase activityGO:000388710.4POLG, POLG2
2nucleotidyltransferase activityGO:001677910.3POLG, POLG2
3aminoacyl-tRNA ligase activityGO:00048129.9DARS2, FARS2
4ligase activityGO:00168749.9DARS2, FARS2
5tRNA bindingGO:00000499.1DARS2, FARS2
6transferase activityGO:00167408.9DGUOK, POLG, POLG2, TYMP

Sources for Mitochondrial Dna Depletion Syndrome 4a

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet