Mitochondrial complex V (ATP synthase) deficiency nuclear type 3
- Synonyms
- MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATP5E TYPE; Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (19 available)
Clinical features
Help- Abnormal cellular phenotype
- Decreased activity of mitochondrial ATP synthase complex
Decreased activity of mitochondrial ATP synthase complex
- MedGen UID: 892442
- Concept ID: C4023125
- Finding: Finding
Abnormal cellular phenotype
- Decreased activity of mitochondrial ATP synthase complex
- Abnormality of metabolism/homeostasis
- Lactic acidosis
Lactic acidosis
- MedGen UID: 1717
- Concept ID: C0001125
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Lactic acidosis
- Abnormality of the cardiovascular system
- Hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy
- MedGen UID: 2881
- Concept ID: C0007194
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Hypertrophic cardiomyopathy
- Abnormality of the genitourinary system
- 3-Methylglutaconic aciduria
3-Methylglutaconic aciduria
- MedGen UID: 777186
- Concept ID: C3696376
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- 3-Methylglutaconic aciduria
- Abnormality of the nervous system
- Intellectual disability
Intellectual disability
- MedGen UID: 811461
- Concept ID: C3714756
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Peripheral neuropathy
Peripheral neuropathy
- MedGen UID: 18386
- Concept ID: C0031117
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Intellectual disability
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