Mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5
- Synonyms
- MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATP5F1D TYPE; MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5
Available tests
Clinical tests (7 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 limbs
- Ankle flexion contracture
Ankle flexion contracture
- MedGen UID: 332440
- Concept ID: C1837407
- Finding: Anatomical Abnormality
Abnormality of limbs
- Ankle flexion contracture
- Abnormality of metabolism/homeostasis
- Elevated circulating creatine kinase concentration
Elevated circulating creatine kinase concentration
- MedGen UID: 69128
- Concept ID: C0241005
- Finding: Finding
Abnormality of metabolism/homeostasis
- Elevated serum anion gap
Elevated serum anion gap
- MedGen UID: 1671031
- Concept ID: C4732778
- Finding: Finding
Abnormality of metabolism/homeostasis
- Hyperammonemia
Hyperammonemia
- MedGen UID: 1802066
- Concept ID: C5574662
- Finding: Laboratory or Test Result
Abnormality of metabolism/homeostasis
- Hypoglycemia
Hypoglycemia
- MedGen UID: 6979
- Concept ID: C0020615
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Ketoacidosis
Ketoacidosis
- MedGen UID: 67434
- Concept ID: C0220982
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Lactic acidosis
Lactic acidosis
- MedGen UID: 1717
- Concept ID: C0001125
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Elevated circulating creatine kinase concentration
- Abnormality of the cardiovascular system
- Primary dilated cardiomyopathy
Primary dilated cardiomyopathy
- MedGen UID: 2880
- Concept ID: C0007193
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Primary dilated 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 musculoskeletal system
- Muscle weakness
Muscle weakness
- MedGen UID: 57735
- Concept ID: C0151786
- Finding: Finding
Abnormality of the musculoskeletal system
- Rhabdomyolysis
Rhabdomyolysis
- MedGen UID: 19775
- Concept ID: C0035410
- Finding: Pathologic Function
Abnormality of the musculoskeletal system
- Muscle weakness
- Abnormality of the nervous system
- Bilateral tonic-clonic seizure
Bilateral tonic-clonic seizure
- MedGen UID: 141670
- Concept ID: C0494475
- Finding: Sign or Symptom
Abnormality of the nervous system
- Delayed speech and language development
Delayed speech and language development
- MedGen UID: 105318
- Concept ID: C0454644
- Finding: Finding
Abnormality of the nervous system
- Encephalopathy
Encephalopathy
- MedGen UID: 39314
- Concept ID: C0085584
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Gait imbalance
Gait imbalance
- MedGen UID: 373028
- Concept ID: C1836150
- Finding: Finding
Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Lethargy
Lethargy
- MedGen UID: 7310
- Concept ID: C0023380
- Finding: Sign or Symptom
Abnormality of the nervous system
- Bilateral tonic-clonic seizure
- Constitutional symptom
- Exercise intolerance
Exercise intolerance
- MedGen UID: 603270
- Concept ID: C0424551
- Finding: Finding
Constitutional symptom
- Exercise intolerance
- Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Short stature
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