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Start free with EleplanTMEM70-related mitochondrial encephalo-cardio-myopathy
ORPHA:1194Disease
Also called Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency · Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency · Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency
What it is
Mitochondrial encephalo-cardio-myopathy due to TMEM70 mutation is characterized by early neonatal onset of hypotonia, hypertrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.
Key facts
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Signs and symptoms
Very common80–99%
10Common30–79%
17- Abnormal aortic valve morphology
- Abnormal pulmonary valve morphology
- Aplasia/Hypoplasia of the corpus callosum
- Camptodactyly of finger
- Cerebral cortical atrophy
- Congestive heart failure
- Cryptorchidism
- Death in infancy
- Flexion contracture
- Growth delay
- Hepatomegaly
- Hypertrophic cardiomyopathy
- Hypospadias
- Intrauterine growth retardation
- Respiratory failure
- Retrognathia
- Wide mouth
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Benefit programs to look at
Programs whose eligibility touches the same ICD-10 categories. Eligibility is decided by the administering agency, never by this page.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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