Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy

General Information (adopted from Orphanet):

Synonyms, Signs: MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, RRM2B-RELATED, INCLUDED
MTDPS8A
MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), INCLUDED
MTDP8B, INCLUDED
MNGIE, RRM2B-RELATED, INCLUDED
mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Number of Symptoms 24
OrphanetNr: 255235
OMIM Id: 612075
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Mitochondrial DNA depletion syndrome, encephalomyopathic form
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare gastroenterologic disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0003355) Aminoaciduria 65 / 7739
2
 (HPO:0000114) Proximal tubulopathy 18 / 7739
3
 (HPO:0000544) External ophthalmoplegia 40 / 7739
4
 (HPO:0002344) Progressive neurologic deterioration 27 / 7739
5
 (HPO:0002066) Gait ataxia 327 / 7739
6
 (HPO:0001250) Seizures 1245 / 7739
7
 (HPO:0001249) Intellectual disability 1089 / 7739
8
 (HPO:0011968) Feeding difficulties 240 / 7739
9
 (HPO:0001508) Failure to thrive 454 / 7739
10
 (HPO:0001824) Weight loss 42 / 7739
11
 (HPO:0004326) Cachexia 71 / 7739
12
 (HPO:0003128) Lactic acidosis 116 / 7739
13
 (HPO:0003200) Ragged-red muscle fibers 37 / 7739
14
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
15
 (HPO:0001252) Muscular hypotonia 990 / 7739
16
 (HPO:0010547) Muscle flaccidity 466 / 7739
17
 (HPO:0001324) Muscle weakness 859 / 7739
18
 (OMIM) Abnormal mitochondrial proliferation 1 / 7739
19
 (OMIM) Cytochrome c oxidase deficiency 2 / 7739
20
 (OMIM) Mitochondrial DNA depletion, severe 1 / 7739
21
 (OMIM) Intestinal dysmotility (1 patient) 1 / 7739
22
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
23
 (OMIM) Poor visual contact 2 / 7739
24
 (HPO:0003676) Progressive disorder 148 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Bourdon et al. (2007) reported 3 sibs, born of consanguineous Moroccan parents, with severe mtDNA depletion syndrome with less than 1% mtDNA in skeletal muscle. All had neonatal hypotonia, lactic acidosis, and neurologic deterioration with death in the ...
Molecular genetics OMIM In 3 Moroccan sibs with severe autosomal recessive mtDNA depletion syndrome-8A, Bourdon et al. (2007) identified homozygous or compound heterozygous mutations in the RRM2B gene (604712.0001-604712.0005).

Kollberg et al. (2009) reported 2 Sudanese brothers, born of ...