MTDPS8A
MCID: MTC065
MIFTS: 39

Mitochondrial Dna Depletion Syndrome 8a (MTDPS8A)

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

Aliases & Classifications for Mitochondrial Dna Depletion Syndrome 8a

MalaCards integrated aliases for Mitochondrial Dna Depletion Syndrome 8a:

Name: Mitochondrial Dna Depletion Syndrome 8a 57 12 20 43 73 13 15 71 71
Mitochondrial Dna Depletion Syndrome 8b 57 12 73 29 6 15 71
Mtdps8a 57 43 73
Rrm2b-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Renal Tubulopathy 12 43
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy 29 6
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Renal Tubulopathy 20 58
Mtdna Depletion Syndrome, Encephalomyopathic Form with Renal Tubulopathy 20 58
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic, with Renal Tubulopathy, Autosomal Recessive 57
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 44
Rrm2b-Related Mitochondrial Dna Depletion Syndrome 20
Mitochondrial Dna Depletion Syndrome 8b Mngie Type 73
Encephalomyopathic Type with Renal Tubulopathy 20
Mitochondrial Dna Depletion Syndrome, Type 8a 39
Mngie Rrm2b-Related 73
Rrm2b-Mds 43
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®:

57 (Updated 05-Mar-2021)
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

MedlinePlus Genetics : 43 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.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.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).Because of the severity of the signs and symptoms, people with RRM2B-MDS usually live only into early childhood.

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 dna depletion syndrome 4b, 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). 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® : 57 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) (Updated 05-Mar-2021)

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 19
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 18)
# Related Disease Score Top Affiliating Genes
1 visceral myopathy, familial, with external ophthalmoplegia 11.7
2 mitochondrial dna depletion syndrome 4b 10.0 TEFM RRM2B
3 mitochondrial dna depletion syndrome 2 10.0 UQCC2 TEFM
4 deafness, aminoglycoside-induced 10.0 TFB1M RRM2B
5 mitochondrial dna depletion syndrome 9.9 RRM2B MGME1
6 pearson marrow-pancreas syndrome 9.8 RRM2B MGME1
7 mitochondrial dna depletion syndrome 7 9.8 RRM2B MGME1
8 leber hereditary optic neuropathy, modifier of 9.8 TFB1M RRM2B
9 ocular motility disease 9.8 RRM2B MGME1
10 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 9.8 RRM2B MGME1
11 chronic progressive external ophthalmoplegia 9.7 RRM2B MGME1
12 kearns-sayre syndrome 9.7 RRM2B MGME1
13 mitochondrial myopathy 9.5 RRM2B MGME1
14 mitochondrial dna depletion syndrome 4a 9.5 RRM2B PRIMPOL MGME1
15 charcot-marie-tooth disease type 2a2b 9.2 UQCC2 TEFM PRIMPOL MGME1
16 mitochondrial dna depletion syndrome 14 9.2 UQCC2 TEFM PRIMPOL MGME1
17 mitochondrial dna depletion syndrome 1 8.9 UQCC2 TFB1M TEFM PRIMPOL MGME1
18 mitochondrial dna depletion syndrome 11 8.9 UQCC2 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 cachexia 31 HP:0004326
5 gait ataxia 31 HP:0002066
6 proximal tubulopathy 31 HP:0000114
7 lactic acidosis 31 HP:0003128
8 feeding difficulties 31 HP:0011968
9 external ophthalmoplegia 31 HP:0000544
10 progressive neurologic deterioration 31 HP:0002344
11 generalized hypotonia 31 HP:0001290
12 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
seizures
mental retardation
ataxic gait
neurologic deterioration

Laboratory Abnormalities:
aminoaciduria

Abdomen Gastrointestinal:
feeding difficulties
intestinal dysmotility (1 patient)

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

Growth Other:
failure to thrive
cachexia
weight loss

Metabolic Features:
lactic acidosis

Head And Neck Eyes:
external ophthalmoplegia
poor visual contact

Genitourinary Kidneys:
proximal renal tubulopathy

Clinical features from OMIM®:

612075 (Updated 05-Mar-2021)

UMLS symptoms related to Mitochondrial Dna Depletion Syndrome 8a:


seizures, cachexia, gait ataxia

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.02 MGME1 PRIMPOL RRM2B TEFM TFB1M

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

Publications for Mitochondrial Dna Depletion Syndrome 8a

Articles related to Mitochondrial Dna Depletion Syndrome 8a:

# Title Authors PMID Year
1
A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death. 6 57
30439532 2019
2
Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B. 6 57
19667227 2009
3
A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion. 57 6
19138848 2009
4
Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion. 57 6
17486094 2007

Variations for Mitochondrial Dna Depletion Syndrome 8a

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

6 (show top 50) (show all 134)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RRM2B NM_001172477.1(RRM2B):c.538-2A>C SNV Pathogenic 132110 rs515726185 8:103237248-103237248 8:102225020-102225020
2 RRM2B NM_001172477.1(RRM2B):c.800del (p.Gly267fs) Deletion Pathogenic 132119 rs515726193 8:103231142-103231142 8:102218914-102218914
3 RRM2B NM_001172477.1(RRM2B):c.1136del (p.Asn379fs) Deletion Pathogenic 132124 rs515726197 8:103220497-103220497 8:102208269-102208269
4 RRM2B NM_001172477.1(RRM2B):c.538-2A>G SNV Pathogenic 5387 rs515726185 8:103237248-103237248 8:102225020-102225020
5 RRM2B RRM2B, 3-BP DEL, 253GAG Deletion Pathogenic 5389
6 RRM2B NM_001172477.1(RRM2B):c.538-2A>G SNV Pathogenic 5387 rs515726185 8:103237248-103237248 8:102225020-102225020
7 RRM2B NM_001172477.1(RRM2B):c.1181dup (p.Asn394fs) Duplication Pathogenic 30433 rs515726201 8:103220451-103220452 8:102208223-102208224
8 RRM2B NM_015713.5(RRM2B):c.527_528insG (p.Ile176fs) Insertion Pathogenic 830053 rs1587178460 8:103236296-103236297 8:102224068-102224069
9 RRM2B NM_001172477.1(RRM2B):c.-5G>A SNV Pathogenic 132103 rs515726180 8:103251055-103251055 8:102238827-102238827
10 RRM2B NM_001172477.1(RRM2B):c.1166del (p.Ser388_Leu389insTer) Deletion Pathogenic 30432 rs515726199 8:103220467-103220467 8:102208239-102208239
11 RRM2B NM_001172477.1(RRM2B):c.-5G>A SNV Pathogenic 132103 rs515726180 8:103251055-103251055 8:102238827-102238827
12 RRM2B NM_001172477.1(RRM2B):c.1066C>T (p.Gln356Ter) SNV Pathogenic 5386 rs121918307 8:103225057-103225057 8:102212829-102212829
13 RRM2B NM_001172477.1(RRM2B):c.796G>A (p.Glu266Lys) SNV Pathogenic 5388 rs121918308 8:103231146-103231146 8:102218918-102218918
14 RRM2B NM_001172477.1(RRM2B):c.923G>T (p.Cys308Phe) SNV Pathogenic 5390 rs121918309 8:103226364-103226364 8:102214136-102214136
15 RRM2B NM_001172477.1(RRM2B):c.902G>T (p.Gly301Val) SNV Pathogenic 5392 rs121918311 8:103226385-103226385 8:102214157-102214157
16 RRM2B NM_001172477.1(RRM2B):c.545G>A (p.Arg182His) SNV Pathogenic 5393 rs267607025 8:103237239-103237239 8:102225011-102225011
17 RRM2B NM_001172477.1(RRM2B):c.578G>A (p.Arg193His) SNV Pathogenic 5394 rs267607024 8:103237206-103237206 8:102224978-102224978
18 RRM2B NM_001172477.1(RRM2B):c.337C>T (p.Arg113Trp) SNV Pathogenic 132104 rs515726181 8:103244460-103244460 8:102232232-102232232
19 RRM2B NM_001172477.1(RRM2B):c.338G>A (p.Arg113Gln) SNV Pathogenic 132105 rs200273673 8:103244459-103244459 8:102232231-102232231
20 RRM2B NM_001172477.1(RRM2B):c.338G>C (p.Arg113Pro) SNV Pathogenic 132106 rs200273673 8:103244459-103244459 8:102232231-102232231
21 RRM2B NM_001172477.1(RRM2B):c.406T>C (p.Trp136Arg) SNV Pathogenic 132107 rs515726182 8:103244391-103244391 8:102232163-102232163
22 RRM2B NM_001172477.1(RRM2B):c.424G>A (p.Asp142Asn) SNV Pathogenic 132108 rs515726183 8:103238259-103238259 8:102226031-102226031
23 RRM2B NM_001172477.1(RRM2B):c.469_471del (p.Glu157del) Deletion Pathogenic 132109 rs515726184 8:103238212-103238214 8:102225984-102225986
24 RRM2B NM_001172477.1(RRM2B):c.544C>T (p.Arg182Cys) SNV Pathogenic 132112 rs515726186 8:103237240-103237240 8:102225012-102225012
25 RRM2B NM_001172477.1(RRM2B):c.545G>A (p.Arg182His) SNV Pathogenic 5393 rs267607025 8:103237239-103237239 8:102225011-102225011
26 RRM2B NM_001172477.1(RRM2B):c.313C>T (p.Pro105Ser) SNV Pathogenic 30436 rs387906892 8:103244484-103244484 8:102232256-102232256
27 RRM2B NM_001172477.1(RRM2B):c.578G>A (p.Arg193His) SNV Pathogenic 5394 rs267607024 8:103237206-103237206 8:102224978-102224978
28 RRM2B NM_001172477.1(RRM2B):c.584T>C (p.Phe195Ser) SNV Pathogenic 132113 rs515726187 8:103237200-103237200 8:102224972-102224972
29 RRM2B NM_001172477.1(RRM2B):c.607G>A (p.Glu203Lys) SNV Pathogenic 132114 rs515726188 8:103237177-103237177 8:102224949-102224949
30 RRM2B NM_001172477.1(RRM2B):c.647C>T (p.Thr216Ile) SNV Pathogenic 132115 rs515726189 8:103237137-103237137 8:102224909-102224909
31 RRM2B NM_001172477.1(RRM2B):c.772A>G (p.Arg258Gly) SNV Pathogenic 132116 rs515726190 8:103231170-103231170 8:102218942-102218942
32 RRM2B NM_001172477.1(RRM2B):c.796G>A (p.Glu266Lys) SNV Pathogenic 5388 rs121918308 8:103231146-103231146 8:102218918-102218918
33 RRM2B NM_001172477.1(RRM2B):c.797A>G (p.Glu266Gly) SNV Pathogenic 132117 rs515726191 8:103231145-103231145 8:102218917-102218917
34 RRM2B NM_001172477.1(RRM2B):c.799G>A (p.Gly267Arg) SNV Pathogenic 132118 rs515726192 8:103231143-103231143 8:102218915-102218915
35 RRM2B NM_001172477.1(RRM2B):c.822T>A (p.Phe274Leu) SNV Pathogenic 30434 rs515726194 8:103231120-103231120 8:102218892-102218892
36 RRM2B NM_001172477.1(RRM2B):c.848G>A (p.Arg283Lys) SNV Pathogenic 132121 rs515726195 8:103231094-103231094 8:102218866-102218866
37 RRM2B NM_001172477.1(RRM2B):c.902G>T (p.Gly301Val) SNV Pathogenic 5392 rs121918311 8:103226385-103226385 8:102214157-102214157
38 RRM2B NM_001172477.1(RRM2B):c.887T>G (p.Ile296Ser) SNV Pathogenic 132122 rs515726196 8:103231055-103231055 8:102218827-102218827
39 RRM2B NM_001172477.1(RRM2B):c.923G>T (p.Cys308Phe) SNV Pathogenic 5390 rs121918309 8:103226364-103226364 8:102214136-102214136
40 RRM2B NM_001172477.1(RRM2B):c.1033G>A (p.Gly345Ser) SNV Pathogenic 30435 rs387906891 8:103225090-103225090 8:102212862-102212862
41 RRM2B NM_001172477.1(RRM2B):c.1062G>C (p.Met354Ile) SNV Pathogenic 132123 rs182614164 8:103225061-103225061 8:102212833-102212833
42 RRM2B NM_001172477.1(RRM2B):c.1066C>T (p.Gln356Ter) SNV Pathogenic 5386 rs121918307 8:103225057-103225057 8:102212829-102212829
43 RRM2B NM_001172477.1(RRM2B):c.1165T>G (p.Leu389Val) SNV Pathogenic 132125 rs515726198 8:103220468-103220468 8:102208240-102208240
44 RRM2B NM_001172477.1(RRM2B):c.1168G>T (p.Glu390Ter) SNV Pathogenic 132127 rs515726200 8:103220465-103220465 8:102208237-102208237
45 RRM2B NM_001172477.1(RRM2B):c.1195C>T (p.Arg399Ter) SNV Pathogenic 5391 rs121918310 8:103220438-103220438 8:102208210-102208210
46 RRM2B NM_001172477.1(RRM2B):c.1262C>G (p.Ala421Gly) SNV Pathogenic 132129 rs515726202 8:103220371-103220371 8:102208143-102208143
47 RRM2B NM_001172477.1(RRM2B):c.887T>G (p.Ile296Ser) SNV Pathogenic 132122 rs515726196 8:103231055-103231055 8:102218827-102218827
48 RRM2B NM_001172477.1(RRM2B):c.337C>T (p.Arg113Trp) SNV Pathogenic 132104 rs515726181 8:103244460-103244460 8:102232232-102232232
49 RRM2B NM_001172477.1(RRM2B):c.851_852insAAG (p.Leu285_Met286insSer) Insertion Likely pathogenic 216993 rs863224914 8:103231090-103231091 8:102218862-102218863
50 RRM2B NM_015713.4(RRM2B):c.1A>G (p.Met1Val) SNV Likely pathogenic 430458 rs772913758 8:103251102-103251102 8:102238874-102238874

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 mitochondrial nucleoid GO:0042645 9.13 UQCC2 TFB1M TEFM
3 mitochondrion GO:0005739 9.1 UQCC2 TFB1M TEFM RRM2B PRIMPOL MGME1

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 9.43 RRM2B PRIMPOL MGME1
2 DNA repair GO:0006281 9.33 RRM2B PRIMPOL MGME1
3 mitochondrial DNA repair GO:0043504 8.96 PRIMPOL MGME1
4 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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