Mitochondrial Dna Depletion Syndrome 8a disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases
Anatomical: Neuronal diseases Nephrological diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the nervous system

Other degenerative diseases of the nervous system

Other degenerative diseases of nervous system, not elsewhere classified

Other specified degenerative diseases of nervous system

Orphanet: ⁵⁹

Rare neurological diseases

Inborn errors of metabolism

External Ids:

OMIM ⁵⁷ 612075

Disease Ontology ¹² DOID:0080127

Orphanet ⁵⁹ ORPHA255235

ICD10 via Orphanet ³⁴ G31.8

MedGen ⁴² C2749861 CN187502 C2749862 more

MeSH ⁴⁴ D017237

UMLS ⁷³ C3711125 C2749861 C3150172

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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.

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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

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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 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

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Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome 8a

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

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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

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Anatomical Context for Mitochondrial Dna Depletion Syndrome 8a

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

⁴¹

Brain

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Publications for Mitochondrial Dna Depletion Syndrome 8a

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Genes for Mitochondrial Dna Depletion Syndrome 8a

Genes related to Mitochondrial Dna Depletion Syndrome 8a (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	RRM2B	Ribonucleotide Reductase Regulatory TP53 Inducible Subunit M2B	Protein Coding	1579.2	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ GeneCards inferred via : Disorders Variants (show sections)	17486094 24741716 19138848

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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

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Expression for Mitochondrial Dna Depletion Syndrome 8a

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

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Pathways for Mitochondrial Dna Depletion Syndrome 8a

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GO Terms for Mitochondrial Dna Depletion Syndrome 8a

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