Mitochondrial dna depletion syndrome 8a (encephalomyopathic type with renal tubulopathy)

Preferred Label : Mitochondrial dna depletion syndrome 8a (encephalomyopathic type with renal tubulopathy);

Symbol : MTDPS8A;

CISMeF acronym : MTDPS8A; MTDPS8B;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mitochondrial dna depletion syndrome, encephalomyopathic, with renal tubulopathy, autosomal recessive;

Included titles and symbols : Mitochondrial dna depletion syndrome 8b (mngie type); Mitochondrial neurogastrointestinal encephalopathy syndrome, rrm2b-related; Mngie, rrm2b-related; MTDPS8B;

Description : 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).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ribonucleotide reductase, M2 B gene (RRM2B, 604712.0001);

Laboratory abnormalities : Aminoaciduria;

Prefixed ID : #612075;

Details

Origin ID

612075;

UMLS CUI

C2749861;

Automatic exact mappings (from CISMeF team)
- Mitochondrial DNA depletion syndrome, encephalomyopathic form [ORDO Disease]
- Mitochondrial neurogastrointestinal encephalomyopathy [ORDO Disease]
- RRM2B wt Allele [NCIt concept]
- mitochondrial DNA depletion syndrome 8b [DO Concept]
- mitochondrial neurogastrointestinal encephalopathy syndrome, Rrm2b-Related [MeSH concept]
Currated CISMeF NLP mapping
- Encephalomyopathic mitochondrial DNA depletion syndrome with renal tubulopathy [ICD-11 More detail]
- Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy [ORDO Disease]
- Ribonucleotide reductase regulatory TP53 inducible subunit M2B-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy (disorder) [SNOMED CT concept]
- mitochondrial DNA depletion syndrome 8A [MeSH concept]
- mitochondrial DNA depletion syndrome 8a [DO Concept]
DO Cross reference
- mitochondrial DNA depletion syndrome 8a [DO Concept]
- mitochondrial DNA depletion syndrome 8b [DO Concept]
Genes related to phenotype
- Ribonucleotide reductase regulatory tp53 inducible subunit m2b [OMIM gene]
HPO term(s)
- Aminoaciduria [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cachexia [HPO term]
- External ophthalmoplegia [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Gait ataxia [HPO term]
- Generalized hypotonia [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Lactic acidosis [HPO term]
- Progressive [HPO term]
- Progressive neurologic deterioration [HPO term]
- Proximal tubulopathy [HPO term]
- Seizure [HPO term]
- Weight loss [HPO term]
ORDO concept(s)
- Mitochondrial DNA depletion syndrome, encephalomyopathic form [ORDO Disease]
- Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy [ORDO Disease]
- Mitochondrial neurogastrointestinal encephalomyopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Encephalomyopathic mitochondrial DNA depletion syndrome with renal tubulopathy [ICD-11 More detail]
- Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy [ORDO Disease]
- Ribonucleotide reductase regulatory TP53 inducible subunit M2B-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy (disorder) [SNOMED CT concept]

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