Mitochondrial Dna Depletion Syndrome 12a (cardiomyopathic Type), Autosomal Dominant; Mtdps12a
Description
MTDPS12A is characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth. Affected infants have respiratory insufficiency requiring mechanical ventilation and have poor or no motor development. Many die in infancy, and those that survive have profound hypotonia with significant muscle weakness and inability to walk independently. Some patients develop hypertrophic cardiomyopathy. Muscle samples show mtDNA depletion and severe combined mitochondrial respiratory chain deficiencies (summary by Thompson et al., 2016).For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (OMIM ).
Genes related to Mitochondrial Dna Depletion Syndrome 12a (cardiomyopathic Type), Autosomal Dominant; Mtdps12a
- SLC25A4
Clinical Features
Top most frequent phenotypes and symptoms related to Mitochondrial Dna Depletion Syndrome 12a (cardiomyopathic Type), Autosomal Dominant; Mtdps12a
- Seizures
- Generalized hypotonia
- Muscle weakness
- Respiratory insufficiency
- Cardiomyopathy
- Hyporeflexia
- Acidosis
- Hypertrophic cardiomyopathy
- Lactic acidosis
- Inability to walk
And another 4 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Mitochondrial Dna Depletion Syndrome 12a (cardiomyopathic Type), Autosomal Dominant; Mtdps12a Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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MitoMet®Plus aCGH Analysis.
By Baylor Miraca Genetics Laboratories (United States).
RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)
View the complete list with 612 more genes
Specificity
1 %
Genes
100 % |
SLC25A4 (ANT1) Sequence Analysis.
By Baylor Miraca Genetics Laboratories (United States).
SLC25A4
Specificity
100 %
Genes
100 % |
SLC25A4 Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
SLC25A4
Specificity
100 %
Genes
100 % |
SLC25A4 Comprehensive - Sequence & Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
SLC25A4
Specificity
100 %
Genes
100 % |
SLC25A4 (ANT1) Sequence Analysis (Prenatal Diagnosis).
By Baylor Miraca Genetics Laboratories (United States).
SLC25A4
Specificity
100 %
Genes
100 % |
mtDNA Depletion/Integrity Panel (MitomeNGS).
By Baylor Miraca Genetics Laboratories (United States).
SLC25A4, SUCLA2, SUCLG1, SUCLG2, TWNK, TK2, MGME1, RRM2B, DGUOK, TYMP, MPV17, OPA1, OPA3, POLG, POLG2
Specificity
7 %
Genes
100 % |
PEO Panel (MitomeNGS).
By Baylor Miraca Genetics Laboratories (United States).
SLC25A4, TWNK, MGME1, RRM2B, OPA1, OPA3, POLG, POLG2
Specificity
13 %
Genes
100 % |
Progressive External Ophthalmoplegia Evaluation (POLG, TWINKLE, ANT1, OPA1, MELAS).
By Athena Diagnostics Inc (United States).
SLC25A4, TWNK, MT-TL1, OPA1, POLG
Specificity
20 %
Genes
100 % |
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Learn moreSources and references
You can check the following sources for additional information.
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