IEMbase 0576: TMEM70-related complex V deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 576 |
| Nosology | 7.5.01.01 |
| Gene | TMEM70 |
| External IDs | OMIM:614052 |
| Generated mapping | UNMAPPED; best candidate COX11-Related_COX_Deficiency.yaml |
| Candidate DisMech targets | Leigh_Syndrome.yaml, NARP_syndrome.yaml, and other complex V entries as broad context only; no exact TMEM70 target found |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents TMEM70-related transmembrane protein 70 deficiency, with alternate label neonatal mitochondrial encephalocardiomyopathy. The record is autosomal recessive, idiopathic subtype, of unknown treatability, and has no treatment rows.
Biochemical rows include increased plasma alanine, normal-to-increased citrulline and glutamine, decreased muscle complex V activity, normal-to-high creatine kinase, increased urinary 3-methylglutaconic acid, normal-to-increased urinary orotic acid, normal-to-high ammonia, increased anion gap, normal-to-high CSF lactate, increased plasma lactate, and normal-to-high urinary uric acid. Clinical and characteristic rows include apnea, basal ganglia MRI lesions, cataract, mild cerebellar hypoplasia, contractures, cortical and subcortical atrophy, cryptorchidism, dysmorphism, gastrointestinal dysmotility, growth retardation, hepatomegaly, crisis hyperammonemia, pulmonary hypertension, hypospadias, liver dysfunction, microcephaly, renal tubulopathy, respiratory insufficiency, Wolff-Parkinson-White syndrome, hypertrophic cardiomyopathy, encephalopathy, failure to thrive, axial hypotonia, crisis ketonuria, lactic acidosis, metabolic acidosis, and psychomotor delay.
DisMech phenotype coverage
The generated COX11-Related_COX_Deficiency.yaml candidate is a complex IV
neighbor, not a TMEM70 complex V assembly target. Local entries such as
Leigh_Syndrome.yaml, NARP_syndrome.yaml, and
Myopathy_Lactic_Acidosis_and_Sideroblastic_Anemia.yaml contain complex V or
ATP synthase context, but they are MT-ATP6/8 or syndrome-specific and do not
cover TMEM70 neonatal mitochondrial encephalocardiomyopathy.
Concordance and completeness
Judgement: reject the COX11 candidate; true TMEM70 complex V assembly deficiency local gap.
IEMbase supplies a detailed seed for future curation, especially reduced muscle complex V activity, 3-methylglutaconic aciduria, lactic/metabolic acidosis, hypertrophic cardiomyopathy, encephalopathy, basal ganglia lesions, pulmonary hypertension, renal tubulopathy, respiratory insufficiency, WPW syndrome, and neonatal multisystem disease.
Curation actions
- Reject
COX11-Related_COX_Deficiency.yamlas an exact mapping. - Add TMEM70-related complex V deficiency / neonatal mitochondrial encephalocardiomyopathy to the mitochondrial complex V backlog.
- Preserve IEMbase biochemical, cardiomyopathy, WPW, pulmonary, renal, neuroimaging, acidosis, and dysmorphology prompts.