Mitochondrial complex V (atp synthase) deficiency, nuclear type 2

Preferred Label : Mitochondrial complex V (atp synthase) deficiency, nuclear type 2;

Symbol : MC5DN2;

CISMeF acronym : MC5DN2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Encephalocardiomyopathy, mitochondrial, neonatal, due to atp synthase deficiency; Mitochondrial complex V (atp synthase) deficiency, tmem70 type;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the transmembrane protein 70 (TMEM70, 612418.0001);

Laboratory abnormalities : Increased serum lactate; Hyperammonemia; 3-methylglutaconic aciduria; Increased serum alanine;

Prefixed ID : #614052;

Details

Origin ID

614052;

UMLS CUI

C3279699;

Currated CISMeF NLP mapping
- Isolated ATP synthase deficiency [ORDO Disease]
- encephalocardiomyopathy, mitochondrial, neonatal, due to atp synthase deficiency [MeSH concept]
- encephalocardiomyopathy, mitochondrial, neonatal, due to atp synthase deficiency [MeSH Supplementary Concept]
- mitochondrial complex V (ATP synthase) deficiency nuclear type 2 [DO Concept]
DO Cross reference
- mitochondrial complex V (ATP synthase) deficiency nuclear type 2 [DO Concept]
Genes related to phenotype
- Transmembrane protein 70 [OMIM gene]
HPO term(s)
- 3-Methylglutaconic aciduria [HPO term]
- Abnormality of mitochondrial metabolism [HPO term]
- Anteverted nares [HPO term]
- Arrhythmia [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Congenital onset [HPO term]
- Cryptorchidism [HPO term]
- Encephalopathy [HPO term]
- Failure to thrive [HPO term]
- Flat face [HPO term]
- Flat occiput [HPO term]
- Gastroparesis [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hyperalaninemia [HPO term]
- Hyperammonemia [HPO term]
- Hypertension [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Hypospadias [HPO term]
- Hypotonia [HPO term]
- Increased serum lactate [HPO term]
- Inguinal hernia [HPO term]
- Intention tremor [HPO term]
- Intrauterine growth retardation [HPO term]
- Lactic acidosis [HPO term]
- Leukoencephalopathy [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Microretrognathia [HPO term]
- Oligohydramnios [HPO term]
- Premature birth [HPO term]
- Psychomotor retardation [HPO term]
- Respiratory insufficiency [HPO term]
- Seizure [HPO term]
- Small for gestational age [HPO term]
- Tremor [HPO term]
- Umbilical hernia [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- TMEM70-related mitochondrial encephalo-cardio-myopathy [ORDO Disease]
See also inter- (CISMeF)
- Isolated ATP synthase deficiency [ICD-11 Sub-sub category]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Isolated ATP synthase deficiency [ORDO Disease]
- TMEM70-related mitochondrial encephalo-cardio-myopathy [ORDO Disease]
- encephalocardiomyopathy, mitochondrial, neonatal, due to atp synthase deficiency [MeSH Supplementary Concept]
- encephalocardiomyopathy, mitochondrial, neonatal, due to atp synthase deficiency [MeSH concept]
- mitochondrial complex V (ATP synthase) deficiency nuclear type 2 [DO Concept]
Validated automatic mappings to NTBT
- Isolated adenosine triphosphate synthase deficiency (disorder) [SNOMED CT concept]

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