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Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
1 OMIM reference -
1 associated gene
20 connected diseases
No signs/symptoms info
Disease Type of connection
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Autosomal dominant progressive external ophthalmoplegia
Kearns-Sayre syndrome
Mitochondrial neurogastrointestinal encephalomyopathy
B-cell chronic lymphocytic leukemia
Adrenocortical carcinoma
Essential thrombocythemia
Familial pancreatic carcinoma
Giant cell glioblastoma
Gliosarcoma
Li-Fraumeni syndrome
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
Dedifferentiated liposarcoma
Well-differentiated liposarcoma
Ataxia-telangiectasia
Ataxia-telangiectasia variant
Combined cervical dystonia
Mantle cell lymphoma
Hyper-IgM syndrome type 2
Synonym(s):
- mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
RRM2B Q7LG56604712
No signs/symptoms info available.