MCID: MTC065
MIFTS: 25

Mitochondrial Dna Depletion Syndrome 8a

Categories: Genetic diseases, Neuronal diseases, Metabolic diseases, Rare diseases, Nephrological 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 75 13 73 73
Mitochondrial Dna Depletion Syndrome 8b 57 75 29 6 73
Mtdps8a 57 75
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic, with Renal Tubulopathy, Autosomal Recessive 57
Mitochondrial Dna Depletion Syndrome Encephalomyopathic with Renal Tubulopathy Autosomal Recessive 75
Mitochondrial Dna Depletion Syndrome 8a Encephalomyopathic Type with Renal Tubulopathy 75
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Renal Tubulopathy 59
Encephalomyopathic Mitochondrial Depletion Syndrome with Renal Tubulopathy 75
Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Rrm2b-Related 75
Mtdna Depletion Syndrome, Encephalomyopathic Form with Renal Tubulopathy 59
Mitochondrial Dna Depletion Syndrome 8b Mngie Type 75
Mitochondrial Dna Depletion Syndrome, Type 8a 40
Mngie Rrm2b-Related 75
Mtdps8b 75

Characteristics:

Orphanet epidemiological data:

59
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
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:

32
mitochondrial dna depletion syndrome 8a:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mitochondrial Dna Depletion Syndrome 8a

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)

MalaCards based summary : Mitochondrial Dna Depletion Syndrome 8a, also known as mitochondrial dna depletion syndrome 8b, is related to rrm2b-related mitochondrial dna depletion syndrome, encephalomyopathic form with renal tubulopathy and rrm2b-related mitochondrial dna depletion syndrome, and has symptoms including cachexia, seizures 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 related phenotypes are proximal tubulopathy and external ophthalmoplegia

UniProtKB/Swiss-Prot : 75 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 related to Mitochondrial Dna Depletion Syndrome 8a via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 rrm2b-related mitochondrial dna depletion syndrome, encephalomyopathic form with renal tubulopathy 11.6
2 rrm2b-related mitochondrial dna depletion syndrome 11.5

Symptoms & Phenotypes for Mitochondrial Dna Depletion Syndrome 8a

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
mental retardation
ataxic gait
neurologic deterioration

Laboratory Abnormalities:
aminoaciduria

Metabolic Features:
lactic acidosis

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)

Head And Neck Eyes:
external ophthalmoplegia
poor visual contact

Genitourinary Kidneys:
proximal renal tubulopathy


Clinical features from OMIM:

612075

Human phenotypes related to Mitochondrial Dna Depletion Syndrome 8a:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 proximal tubulopathy 32 HP:0000114
2 external ophthalmoplegia 32 HP:0000544
3 intellectual disability 32 HP:0001249
4 seizures 32 HP:0001250
5 generalized hypotonia 32 HP:0001290
6 failure to thrive 32 HP:0001508
7 gait ataxia 32 HP:0002066
8 progressive neurologic deterioration 32 HP:0002344
9 lactic acidosis 32 HP:0003128
10 aminoaciduria 32 HP:0003355
11 cachexia 32 HP:0004326
12 feeding difficulties 32 HP:0011968

UMLS symptoms related to Mitochondrial Dna Depletion Syndrome 8a:


cachexia, seizures, gait ataxia

Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome 8a

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

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 8b (mngie Type) 29

Anatomical Context for Mitochondrial Dna Depletion Syndrome 8a

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

41
Brain

Publications for Mitochondrial Dna Depletion Syndrome 8a

Variations for Mitochondrial Dna Depletion Syndrome 8a

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

75
# 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

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

6
(show all 17)
# Gene Variation Type Significance SNP ID Assembly Location
1 RRM2B NM_015713.4(RRM2B): c.850C> T (p.Gln284Ter) single nucleotide variant Pathogenic rs121918307 GRCh37 Chromosome 8, 103225057: 103225057
2 RRM2B NM_015713.4(RRM2B): c.850C> T (p.Gln284Ter) single nucleotide variant Pathogenic rs121918307 GRCh38 Chromosome 8, 102212829: 102212829
3 RRM2B NM_015713.4(RRM2B): c.322-2A> G single nucleotide variant Pathogenic rs515726185 GRCh37 Chromosome 8, 103237248: 103237248
4 RRM2B NM_015713.4(RRM2B): c.322-2A> G single nucleotide variant Pathogenic rs515726185 GRCh38 Chromosome 8, 102225020: 102225020
5 RRM2B NM_015713.4(RRM2B): c.580G> A (p.Glu194Lys) single nucleotide variant Pathogenic rs121918308 GRCh37 Chromosome 8, 103231146: 103231146
6 RRM2B NM_015713.4(RRM2B): c.580G> A (p.Glu194Lys) single nucleotide variant Pathogenic rs121918308 GRCh38 Chromosome 8, 102218918: 102218918
7 RRM2B RRM2B, 3-BP DEL, 253GAG deletion Pathogenic
8 RRM2B NM_015713.4(RRM2B): c.707G> T (p.Cys236Phe) single nucleotide variant Pathogenic rs121918309 GRCh37 Chromosome 8, 103226364: 103226364
9 RRM2B NM_015713.4(RRM2B): c.707G> T (p.Cys236Phe) single nucleotide variant Pathogenic rs121918309 GRCh38 Chromosome 8, 102214136: 102214136
10 RRM2B NM_015713.4(RRM2B): c.686G> T (p.Gly229Val) single nucleotide variant Pathogenic rs121918311 GRCh37 Chromosome 8, 103226385: 103226385
11 RRM2B NM_015713.4(RRM2B): c.686G> T (p.Gly229Val) single nucleotide variant Pathogenic rs121918311 GRCh38 Chromosome 8, 102214157: 102214157
12 RRM2B NM_015713.4(RRM2B): c.329G> A (p.Arg110His) single nucleotide variant Pathogenic rs267607025 GRCh37 Chromosome 8, 103237239: 103237239
13 RRM2B NM_015713.4(RRM2B): c.329G> A (p.Arg110His) single nucleotide variant Pathogenic rs267607025 GRCh38 Chromosome 8, 102225011: 102225011
14 RRM2B NM_015713.4(RRM2B): c.362G> A (p.Arg121His) single nucleotide variant Pathogenic rs267607024 GRCh37 Chromosome 8, 103237206: 103237206
15 RRM2B NM_015713.4(RRM2B): c.362G> A (p.Arg121His) single nucleotide variant Pathogenic rs267607024 GRCh38 Chromosome 8, 102224978: 102224978
16 RRM2B NM_015713.4(RRM2B): c.635_636insAAG (p.Gly212_Leu213insSer) insertion Likely pathogenic rs863224914 GRCh37 Chromosome 8, 103231090: 103231091
17 RRM2B NM_015713.4(RRM2B): c.635_636insAAG (p.Gly212_Leu213insSer) insertion Likely pathogenic rs863224914 GRCh38 Chromosome 8, 102218862: 102218863

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

Sources for Mitochondrial Dna Depletion Syndrome 8a

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74 UMLS via Orphanet
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