MTDPS8A
MCID: MTC065
MIFTS: 41

Mitochondrial Dna Depletion Syndrome 8a (MTDPS8A)

Categories: Bone diseases, Cardiovascular diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mitochondrial Dna Depletion Syndrome 8a

MalaCards integrated aliases for Mitochondrial Dna Depletion Syndrome 8a:

Name: Mitochondrial Dna Depletion Syndrome 8a 56 12 52 25 73 13 15 71 71
Mitochondrial Dna Depletion Syndrome 8b 56 12 73 29 6 15 71
Mtdps8a 56 25 73
Rrm2b-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Renal Tubulopathy 12 25
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy 29 6
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Renal Tubulopathy 52 58
Mtdna Depletion Syndrome, Encephalomyopathic Form with Renal Tubulopathy 52 58
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic, with Renal Tubulopathy, Autosomal Recessive 56
Mitochondrial Dna Depletion Syndrome Encephalomyopathic with Renal Tubulopathy Autosomal Recessive 73
Mitochondrial Dna Depletion Syndrome 8a Encephalomyopathic Type with Renal Tubulopathy 73
Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Rrm2b-Related 12
Encephalomyopathic Mitochondrial Depletion Syndrome with Renal Tubulopathy 73
Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Rrm2b-Related 73
Visceral Myopathy Familial External Ophthalmoplegia 43
Rrm2b-Related Mitochondrial Dna Depletion Syndrome 52
Mitochondrial Dna Depletion Syndrome 8b Mngie Type 73
Encephalomyopathic Type with Renal Tubulopathy 52
Mitochondrial Dna Depletion Syndrome, Type 8a 39
Mngie Rrm2b-Related 73
Rrm2b-Mds 25
Mtdps8b 73

Characteristics:

Orphanet epidemiological data:

58
mitochondrial dna depletion syndrome, encephalomyopathic form with renal tubulopathy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: infantile;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset usually in infancy
death can occur in infancy
some patients have later onset and more variable phenotype (mngie)


HPO:

31
mitochondrial dna depletion syndrome 8a:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Mitochondrial Dna Depletion Syndrome 8a

Genetics Home Reference : 25 RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy (RRM2B-MDS) is a severe condition that begins in infancy and affects multiple body systems. It is associated with brain dysfunction combined with muscle weakness (encephalomyopathy). Many affected individuals also have a kidney dysfunction known as renal tubulopathy. RRM2B RRM2B Infants with RRM2B-MDS have weak muscle tone (hypotonia) and a failure to grow or gain weight at the expected rate (failure to thrive). Many have a smaller-than-normal head size (microcephaly). Due to muscle weakness, affected infants typically have difficulty controlling head movement and may have delayed development of other motor skills, such as rolling over or sitting. Weakness of the muscles used for breathing leads to serious breathing difficulties and can result in life-threatening respiratory failure. Most affected infants have a buildup of a chemical called lactic acid in the body (lactic acidosis), which can also be life-threatening. RRM2B Some individuals with RRM2B-MDS have a digestion problem known as gastrointestinal dysmotility, in which the muscles and nerves of the digestive system do not move food through the digestive tract efficiently. This disorder may lead to swallowing difficulties, vomiting, and diarrhea and can contribute to a failure to thrive. Less commonly, individuals with RRM2B-MDS develop seizures or hearing loss that is caused by nerve damage in the inner ear (sensorineural hearing loss). RRM2B RRM2B Because of the severity of the signs and symptoms, people with RRM2B-MDS usually live only into early childhood. RRM2B

MalaCards based summary : Mitochondrial Dna Depletion Syndrome 8a, also known as mitochondrial dna depletion syndrome 8b, is related to visceral myopathy, familial, with external ophthalmoplegia and mitochondrial neurogastrointestinal encephalomyopathy, and has symptoms including seizures, cachexia and gait ataxia. An important gene associated with Mitochondrial Dna Depletion Syndrome 8a is RRM2B (Ribonucleotide Reductase Regulatory TP53 Inducible Subunit M2B). Affiliated tissues include brain and kidney, and related phenotypes are intellectual disability and failure to thrive

Disease Ontology : 12 A mitochondrial DNA depletion syndrome that is characterized by neonatal hypotonia, lactic acidosis, and neurologic deterioration, and has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the ribonucleotide reductase regulatory TP53 inducible subunit M2B gene on chromosome 8q22.

OMIM : 56 Mitochondrial DNA depletion syndrome-8A is a severe autosomal recessive disorder characterized by neonatal hypotonia, lactic acidosis, and neurologic deterioration. Renal tubular involvement may also occur (Bourdon et al., 2007). Mitochondrial DNA depletion syndrome-8B is characterized by ophthalmoplegia, ptosis, gastrointestinal dysmotility, cachexia, peripheral neuropathy, and brain MRI changes, known as the MNGIE phenotype (Shaibani et al., 2009). For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (603041). (612075)

UniProtKB/Swiss-Prot : 73 Mitochondrial DNA depletion syndrome 8A: A disorder due to mitochondrial dysfunction characterized by various combinations of neonatal hypotonia, neurological deterioration, respiratory distress, lactic acidosis, and renal tubulopathy.
Mitochondrial DNA depletion syndrome 8B: A disease due to mitochondrial dysfunction and characterized by ophthalmoplegia, ptosis, gastrointestinal dysmotility, cachexia, peripheral neuropathy.

Related Diseases for Mitochondrial Dna Depletion Syndrome 8a

Diseases in the Mitochondrial Dna Depletion Syndrome family:

Mitochondrial Dna Depletion Syndrome 4a Mitochondrial Dna Depletion Syndrome 9
Mitochondrial Dna Depletion Syndrome 3 Mitochondrial Dna Depletion Syndrome 6
Mitochondrial Dna Depletion Syndrome 7 Mitochondrial Dna Depletion Syndrome 1
Mitochondrial Dna Depletion Syndrome 2 Mitochondrial Dna Depletion Syndrome 5
Mitochondrial Dna Depletion Syndrome 8a Mitochondrial Dna Depletion Syndrome 4b
Mitochondrial Dna Depletion Syndrome 11 Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive
Mitochondrial Dna Depletion Syndrome 13 Mitochondrial Dna Depletion Syndrome 14
Mitochondrial Dna Depletion Syndrome 15 Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant
Mitochondrial Dna Depletion Syndrome 16 Mitochondrial Dna Depletion Syndrome 17
Mitochondrial Dna Depletion Syndrome 18 Mitochondrial Dna Depletion Syndrome 12a
Mitochondrial Dna Depletion Syndrome 12b Mitochondrial Dna Deletion Syndromes
Multiple Mitochondrial Dna Deletion Syndrome

Diseases related to Mitochondrial Dna Depletion Syndrome 8a via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 24)
# Related Disease Score Top Affiliating Genes
1 visceral myopathy, familial, with external ophthalmoplegia 11.9
2 mitochondrial neurogastrointestinal encephalomyopathy 10.0 TYMP RRM2B
3 mitochondrial dna depletion syndrome 2 10.0 TEFM PRIMPOL
4 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 9.9 TYMP RRM2B
5 mitochondrial dna depletion syndrome 6 9.9 TYMP RRM2B
6 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 9.9 TYMP RRM2B
7 mitochondrial dna depletion syndrome 3 9.8 TYMP TEFM
8 deafness, aminoglycoside-induced 9.7 TFB1M RRM2B
9 leber optic atrophy 9.6 TYMP TFB1M RRM2B
10 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.5 TYMP TFB1M
11 mitochondrial dna depletion syndrome 9.4 TYMP RRM2B MGME1
12 pearson marrow-pancreas syndrome 9.4 TYMP RRM2B MGME1
13 mitochondrial dna depletion syndrome 7 9.4 TYMP RRM2B MGME1
14 ocular motility disease 9.4 TYMP RRM2B MGME1
15 chronic progressive external ophthalmoplegia 9.4 TYMP RRM2B MGME1
16 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 9.4 TYMP RRM2B MGME1
17 kearns-sayre syndrome 9.3 TYMP RRM2B MGME1
18 mitochondrial myopathy 9.3 TYMP RRM2B MGME1
19 mitochondrial dna depletion syndrome 4a 9.1 TYMP RRM2B PRIMPOL MGME1
20 mitochondrial metabolism disease 9.0 TYMP TFB1M RRM2B MGME1
21 charcot-marie-tooth disease type 2a2b 8.6 UQCC2 TFB1M TEFM PRIMPOL MGME1
22 mitochondrial dna depletion syndrome 14 8.6 UQCC2 TFB1M TEFM PRIMPOL MGME1
23 mitochondrial dna depletion syndrome 11 8.6 UQCC2 TFB1M TEFM PRIMPOL MGME1
24 mitochondrial dna depletion syndrome 1 8.2 UQCC2 TYMP TFB1M TEFM PRIMPOL MGME1

Graphical network of the top 20 diseases related to Mitochondrial Dna Depletion Syndrome 8a:



Diseases related to Mitochondrial Dna Depletion Syndrome 8a

Symptoms & Phenotypes for Mitochondrial Dna Depletion Syndrome 8a

Human phenotypes related to Mitochondrial Dna Depletion Syndrome 8a:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 failure to thrive 31 HP:0001508
3 aminoaciduria 31 HP:0003355
4 feeding difficulties 31 HP:0011968
5 cachexia 31 HP:0004326
6 gait ataxia 31 HP:0002066
7 external ophthalmoplegia 31 HP:0000544
8 proximal tubulopathy 31 HP:0000114
9 lactic acidosis 31 HP:0003128
10 progressive neurologic deterioration 31 HP:0002344
11 generalized hypotonia 31 HP:0001290
12 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
mental retardation
ataxic gait
neurologic deterioration

Laboratory Abnormalities:
aminoaciduria

Head And Neck Eyes:
external ophthalmoplegia
poor visual contact

Muscle Soft Tissue:
hypotonia
ragged red fibers
mitochondrial dna depletion, severe
abnormal mitochondrial proliferation
cytochrome c oxidase deficiency

Growth Other:
failure to thrive
weight loss
cachexia

Abdomen Gastrointestinal:
feeding difficulties
intestinal dysmotility (1 patient)

Metabolic Features:
lactic acidosis

Genitourinary Kidneys:
proximal renal tubulopathy

Clinical features from OMIM:

612075

UMLS symptoms related to Mitochondrial Dna Depletion Syndrome 8a:


seizures, cachexia, gait ataxia

MGI Mouse Phenotypes related to Mitochondrial Dna Depletion Syndrome 8a:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.1 MGME1 PRIMPOL RRM2B TEFM TFB1M TYMP

Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome 8a

Search Clinical Trials , NIH Clinical Center for Mitochondrial Dna Depletion Syndrome 8a

Cochrane evidence based reviews: visceral myopathy familial external ophthalmoplegia

Genetic Tests for Mitochondrial Dna Depletion Syndrome 8a

Genetic tests related to Mitochondrial Dna Depletion Syndrome 8a:

# Genetic test Affiliating Genes
1 Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy 29 RRM2B
2 Mitochondrial Dna Depletion Syndrome 8b (mngie Type) 29

Anatomical Context for Mitochondrial Dna Depletion Syndrome 8a

MalaCards organs/tissues related to Mitochondrial Dna Depletion Syndrome 8a:

40
Brain, Kidney

Publications for Mitochondrial Dna Depletion Syndrome 8a

Articles related to Mitochondrial Dna Depletion Syndrome 8a:

# Title Authors PMID Year
1
Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B. 56 6
19667227 2009
2
A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion. 6 56
19138848 2009
3
Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion. 56 6
17486094 2007
4
RRM2B-Related Mitochondrial Disease 6
24741716 2014

Variations for Mitochondrial Dna Depletion Syndrome 8a

ClinVar genetic disease variations for Mitochondrial Dna Depletion Syndrome 8a:

6 (show top 50) (show all 96) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RRM2B NM_015713.5(RRM2B):c.527_528insG (p.Ile176fs)insertion Pathogenic 830053 8:103236296-103236297 8:102224068-102224069
2 RRM2B NM_001172477.1(RRM2B):c.1066C>T (p.Gln356Ter)SNV Pathogenic 5386 rs121918307 8:103225057-103225057 8:102212829-102212829
3 RRM2B NM_001172477.1(RRM2B):c.538-2A>GSNV Pathogenic 5387 rs515726185 8:103237248-103237248 8:102225020-102225020
4 RRM2B NM_001172477.1(RRM2B):c.796G>A (p.Glu266Lys)SNV Pathogenic 5388 rs121918308 8:103231146-103231146 8:102218918-102218918
5 RRM2B RRM2B, 3-BP DEL, 253GAGdeletion Pathogenic 5389
6 RRM2B NM_001172477.1(RRM2B):c.923G>T (p.Cys308Phe)SNV Pathogenic 5390 rs121918309 8:103226364-103226364 8:102214136-102214136
7 RRM2B NM_001172477.1(RRM2B):c.902G>T (p.Gly301Val)SNV Pathogenic 5392 rs121918311 8:103226385-103226385 8:102214157-102214157
8 RRM2B NM_001172477.1(RRM2B):c.545G>A (p.Arg182His)SNV Pathogenic 5393 rs267607025 8:103237239-103237239 8:102225011-102225011
9 RRM2B NM_001172477.1(RRM2B):c.578G>A (p.Arg193His)SNV Pathogenic 5394 rs267607024 8:103237206-103237206 8:102224978-102224978
10 RRM2B NM_001172477.1(RRM2B):c.-5G>ASNV Pathogenic 132103 rs515726180 8:103251055-103251055 8:102238827-102238827
11 RRM2B NM_001172477.1(RRM2B):c.337C>T (p.Arg113Trp)SNV Pathogenic 132104 rs515726181 8:103244460-103244460 8:102232232-102232232
12 RRM2B NM_001172477.1(RRM2B):c.887T>G (p.Ile296Ser)SNV Pathogenic/Likely pathogenic 132122 rs515726196 8:103231055-103231055 8:102218827-102218827
13 RRM2B NM_001172477.1(RRM2B):c.334C>T (p.Arg112Cys)SNV Likely pathogenic 215095 rs776184830 8:103244463-103244463 8:102232235-102232235
14 RRM2B NM_001172477.1(RRM2B):c.851_852insAAG (p.Leu285_Met286insSer)insertion Likely pathogenic 216993 rs863224914 8:103231090-103231091 8:102218862-102218863
15 RRM2B NM_015713.5(RRM2B):c.128T>A (p.Val43Asp)SNV Likely pathogenic 830054 8:103244453-103244453 8:102232225-102232225
16 RRM2B NM_001172477.1(RRM2B):c.878A>G (p.Asn293Ser)SNV Conflicting interpretations of pathogenicity 215094 rs863224193 8:103231064-103231064 8:102218836-102218836
17 RRM2B NM_001172477.1(RRM2B):c.760A>G (p.Thr254Ala)SNV Conflicting interpretations of pathogenicity 215088 rs147315735 8:103236280-103236280 8:102224052-102224052
18 RRM2B NC_000008.11:g.102238975C>TSNV Conflicting interpretations of pathogenicity 909125 8:103251203-103251203 8:102238975-102238975
19 RRM2B NM_001172477.1(RRM2B):c.*2822A>TSNV Conflicting interpretations of pathogenicity 361138 rs189278573 8:103217539-103217539 8:102205311-102205311
20 RRM2B NM_001172477.1(RRM2B):c.*11G>ASNV Conflicting interpretations of pathogenicity 361175 rs29000285 8:103220350-103220350 8:102208122-102208122
21 RRM2B NM_001172477.1(RRM2B):c.*3078G>TSNV Conflicting interpretations of pathogenicity 361133 rs113860402 8:103217283-103217283 8:102205055-102205055
22 RRM2B NM_001172477.1(RRM2B):c.*817G>ASNV Conflicting interpretations of pathogenicity 361167 rs190474682 8:103219544-103219544 8:102207316-102207316
23 RRM2B NM_001172477.1(RRM2B):c.1129G>T (p.Ala377Ser)SNV Conflicting interpretations of pathogenicity 361176 rs201440849 8:103220504-103220504 8:102208276-102208276
24 RRM2B NM_001172477.1(RRM2B):c.972G>A (p.Arg324=)SNV Conflicting interpretations of pathogenicity 361178 rs377736828 8:103226315-103226315 8:102214087-102214087
25 RRM2B NM_001172477.1(RRM2B):c.756A>G (p.Lys252=)SNV Conflicting interpretations of pathogenicity 361179 rs200301242 8:103236284-103236284 8:102224056-102224056
26 RRM2B NM_001172477.1(RRM2B):c.1006-9T>CSNV Conflicting interpretations of pathogenicity 361177 rs573435546 8:103225126-103225126 8:102212898-102212898
27 RRM2B NM_001172477.1(RRM2B):c.*855C>GSNV Uncertain significance 361166 rs886062567 8:103219506-103219506 8:102207278-102207278
28 RRM2B NM_001172477.1(RRM2B):c.*247G>ASNV Uncertain significance 361172 rs886062568 8:103220114-103220114 8:102207886-102207886
29 RRM2B NM_001172477.1(RRM2B):c.719A>G (p.Lys240Arg)SNV Uncertain significance 361180 rs886062571 8:103236321-103236321 8:102224093-102224093
30 RRM2B NM_001172477.1(RRM2B):c.*3125T>CSNV Uncertain significance 361132 rs886062560 8:103217236-103217236 8:102205008-102205008
31 RRM2B NM_001172477.1(RRM2B):c.*328G>ASNV Uncertain significance 361171 rs142449540 8:103220033-103220033 8:102207805-102207805
32 RRM2B NM_001172477.1(RRM2B):c.*2809G>ASNV Uncertain significance 361139 rs886062562 8:103217552-103217552 8:102205324-102205324
33 RRM2B NM_001172477.1(RRM2B):c.*2722A>GSNV Uncertain significance 361140 rs543127762 8:103217639-103217639 8:102205411-102205411
34 RRM2B NM_001172477.1(RRM2B):c.*552G>ASNV Uncertain significance 361170 rs375924434 8:103219809-103219809 8:102207581-102207581
35 RRM2B NM_001172477.1(RRM2B):c.*73A>TSNV Uncertain significance 361174 rs886062570 8:103220288-103220288 8:102208060-102208060
36 RRM2B NM_001172477.1(RRM2B):c.*3266G>TSNV Uncertain significance 361131 rs746260787 8:103217095-103217095 8:102204867-102204867
37 RRM2B NM_001172477.1(RRM2B):c.*2978A>GSNV Uncertain significance 361135 rs761021253 8:103217383-103217383 8:102205155-102205155
38 RRM2B NM_001172477.1(RRM2B):c.*2513T>CSNV Uncertain significance 361144 rs866323859 8:103217848-103217848 8:102205620-102205620
39 RRM2B NM_001172477.1(RRM2B):c.*2960G>ASNV Uncertain significance 361136 rs886062561 8:103217401-103217401 8:102205173-102205173
40 RRM2B NM_001172477.1(RRM2B):c.*2410C>ASNV Uncertain significance 361146 rs767476703 8:103217951-103217951 8:102205723-102205723
41 RRM2B NM_001172477.1(RRM2B):c.*1717T>ASNV Uncertain significance 361155 rs886062566 8:103218644-103218644 8:102206416-102206416
42 RRM2B NM_001172477.1(RRM2B):c.*3289A>GSNV Uncertain significance 361130 rs569359604 8:103217072-103217072 8:102204844-102204844
43 RRM2B NM_001172477.1(RRM2B):c.*869G>TSNV Uncertain significance 361164 rs771055735 8:103219492-103219492 8:102207264-102207264
44 RRM2B NM_001172477.1(RRM2B):c.*788T>CSNV Uncertain significance 361168 rs559700946 8:103219573-103219573 8:102207345-102207345
45 RRM2B NC_000008.11:g.102239067C>GSNV Uncertain significance 909969 8:103251295-103251295 8:102239067-102239067
46 RRM2B NM_015713.5(RRM2B):c.162A>G (p.Lys54=)SNV Uncertain significance 909123 8:103244419-103244419 8:102232191-102232191
47 RRM2B NM_015713.5(RRM2B):c.-1G>CSNV Uncertain significance 909124 8:103251103-103251103 8:102238875-102238875
48 RRM2B NM_015713.5(RRM2B):c.*3577G>TSNV Uncertain significance 909664 8:103216784-103216784 8:102204556-102204556
49 RRM2B NM_015713.5(RRM2B):c.*3473A>GSNV Uncertain significance 910591 8:103216888-103216888 8:102204660-102204660
50 RRM2B NM_015713.5(RRM2B):c.*3250G>CSNV Uncertain significance 908867 8:103217111-103217111 8:102204883-102204883

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Dna Depletion Syndrome 8a:

73
# Symbol AA change Variation ID SNP ID
1 RRM2B p.Trp64Arg VAR_046217 rs515726182
2 RRM2B p.Glu194Gly VAR_046219 rs515726191
3 RRM2B p.Glu194Lys VAR_046220 rs121918308
4 RRM2B p.Ile224Ser VAR_046221 rs515726196
5 RRM2B p.Cys236Phe VAR_046222 rs121918309
6 RRM2B p.Met282Ile VAR_046223 rs182614164
7 RRM2B p.Leu317Val VAR_046224 rs515726198
8 RRM2B p.Arg110His VAR_065122 rs267607025
9 RRM2B p.Arg121His VAR_065123 rs267607024

Expression for Mitochondrial Dna Depletion Syndrome 8a

Search GEO for disease gene expression data for Mitochondrial Dna Depletion Syndrome 8a.

Pathways for Mitochondrial Dna Depletion Syndrome 8a

GO Terms for Mitochondrial Dna Depletion Syndrome 8a

Cellular components related to Mitochondrial Dna Depletion Syndrome 8a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 9.46 UQCC2 TFB1M TEFM PRIMPOL
2 mitochondrion GO:0005739 9.43 UQCC2 TFB1M TEFM RRM2B PRIMPOL MGME1
3 mitochondrial nucleoid GO:0042645 8.8 UQCC2 TFB1M TEFM

Biological processes related to Mitochondrial Dna Depletion Syndrome 8a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.5 RRM2B PRIMPOL MGME1
2 DNA repair GO:0006281 9.43 RRM2B PRIMPOL MGME1
3 mitochondrial genome maintenance GO:0000002 9.16 TYMP MGME1
4 mitochondrial DNA repair GO:0043504 8.96 PRIMPOL MGME1
5 mitochondrial DNA replication GO:0006264 8.92 TEFM RRM2B PRIMPOL MGME1

Sources for Mitochondrial Dna Depletion Syndrome 8a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
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50 NDF-RT
53 NINDS
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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