MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE)

General Information (adopted from Orphanet):

Synonyms, Signs: MTDPS12
Number of Symptoms 21
OrphanetNr:
OMIM Id: 615418
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000518) Cataract rare [HPO:skoehler] 454 / 7739
2
(HPO:0010697) Anterior pyramidal cataract 22 / 7739
3
(HPO:0100543) Cognitive impairment rare [HPO:skoehler] 230 / 7739
4
(HPO:0001771) Achilles tendon contracture 27 / 7739
5
(HPO:0001513) Obesity rare [HPO:skoehler] 172 / 7739
6
(HPO:0001639) Hypertrophic cardiomyopathy 137 / 7739
7
(HPO:0003128) Lactic acidosis 116 / 7739
8
(HPO:0003700) Generalized amyotrophy 39 / 7739
9
(HPO:0003546) Exercise intolerance 62 / 7739
10
(HPO:0001324) Muscle weakness rare [HPO:skoehler] 859 / 7739
11
(HPO:0003202) Skeletal muscle atrophy rare [HPO:skoehler] 281 / 7739
12
(HPO:0100295) Muscle fiber atrophy 22 / 7739
13
(HPO:0003326) Myalgia 143 / 7739
14
(HPO:0001252) Muscular hypotonia 990 / 7739
15
(OMIM) Ragged red fibers seen on biopsy 1 / 7739
16
(OMIM) Accumulation of abnormal mitochondria 1 / 7739
17
(OMIM) Hammer-shaped toes (1 patient) 1 / 7739
18
(MedDRA:10051403) Mitochondrial DNA deletion 6 / 7739
19
(OMIM) High-arched feet (1 patient) 1 / 7739
20
(HPO:0003677) Slow progression 134 / 7739
21
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Mitochondrial DNA depletion syndrome-12 is an autosomal recessive mitochondrial disorder characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance and, in some patients, muscle weakness and atrophy. Skeletal muscle biopsy ...
Clinical Description OMIM Palmieri et al. (2005) reported a 25-year-old Slovenian male with hypertrophic cardiomyopathy, mild myopathy with exercise intolerance, and lactic acidosis, but no ophthalmoplegia. Muscle biopsy revealed numerous ragged-red fibers, and Southern blot analysis disclosed multiple deletions of muscle ...
Molecular genetics OMIM In a 25-year-old Slovenian male with hypertrophic cardiomyopathy and exercise intolerance, Palmieri et al. (2005) identified homozygosity for a mutation in the SLC25A4 gene (A123D; 103220.0005). The unaffected mother was heterozygous for the mutation, and the father was ...