MTDPS8A
MCID: MTC065
MIFTS: 41
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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
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MalaCards integrated aliases for Mitochondrial Dna Depletion Syndrome 8a:
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:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases Gastrointestinal diseases Nephrological diseases Eye diseases Liver diseases Bone diseases Ear diseases Cardiovascular diseases
ICD10:
33
Orphanet: 58
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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. |
Human phenotypes related to Mitochondrial Dna Depletion Syndrome 8a:31 (show all 12)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:612075UMLS symptoms related to Mitochondrial Dna Depletion Syndrome 8a:seizures, cachexia, gait ataxia |
Cochrane evidence based reviews: visceral myopathy familial external ophthalmoplegia |
MalaCards organs/tissues related to Mitochondrial Dna Depletion Syndrome 8a:40
Brain,
Kidney
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Articles related to Mitochondrial Dna Depletion Syndrome 8a:
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ClinVar genetic disease variations for Mitochondrial Dna Depletion Syndrome 8a:6 (show top 50) (show all 96)
UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Dna Depletion Syndrome 8a:73
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Search
GEO
for disease gene expression data for Mitochondrial Dna Depletion Syndrome 8a.
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Cellular components related to Mitochondrial Dna Depletion Syndrome 8a according to GeneCards Suite gene sharing:
Biological processes related to Mitochondrial Dna Depletion Syndrome 8a according to GeneCards Suite gene sharing:
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