Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
- Synonyms
- MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE; Nuclear-Encoded ATPase Deficiency, ATPAF2-Related; Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (35 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 blood and blood-forming tissues
- Anisocytosis
Anisocytosis
- MedGen UID: 66371
- Concept ID: C0221278
- Finding: Finding
Abnormality of blood and blood-forming tissues
- Anisocytosis
- Abnormality of head or neck
- Prominent nasal bridge
Prominent nasal bridge
- MedGen UID: 343051
- Concept ID: C1854113
- Finding: Finding
Abnormality of head or neck
- Wide mouth
Wide mouth
- MedGen UID: 44238
- Concept ID: C0024433
- Finding: Congenital Abnormality
Abnormality of head or neck
- Prominent nasal bridge
- Abnormality of limbs
- Congenital vertical talus
Congenital vertical talus
- MedGen UID: 66821
- Concept ID: C0240912
- Finding: Congenital Abnormality
Abnormality of limbs
- Congenital vertical talus
- Abnormality of metabolism/homeostasis
- Increased circulating lactate concentration
Increased circulating lactate concentration
- MedGen UID: 332209
- Concept ID: C1836440
- Finding: Finding
Abnormality of metabolism/homeostasis
- Increased circulating lactate concentration
- Abnormality of the digestive system
- Hepatomegaly
Hepatomegaly
- MedGen UID: 42428
- Concept ID: C0019209
- Finding: Finding
Abnormality of the digestive system
- Poor suck
Poor suck
- MedGen UID: 324693
- Concept ID: C1837142
- Finding: Finding
Abnormality of the digestive system
- Hepatomegaly
- 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
- Aminoaciduria
Aminoaciduria
- MedGen UID: 116067
- Concept ID: C0238621
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Lacticaciduria
Lacticaciduria
- MedGen UID: 871116
- Concept ID: C4025585
- Finding: Finding
Abnormality of the genitourinary system
- Renal hypoplasia
Renal hypoplasia
- MedGen UID: 120571
- Concept ID: C0266295
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- 3-Methylglutaconic aciduria
- Abnormality of the musculoskeletal system
- Camptodactyly
Camptodactyly
- MedGen UID: 195780
- Concept ID: C0685409
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Flexion contracture
Flexion contracture
- MedGen UID: 83069
- Concept ID: C0333068
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Hypertonia
Hypertonia
- MedGen UID: 10132
- Concept ID: C0026826
- Finding: Finding
Abnormality of the musculoskeletal system
- Microcephaly
Microcephaly
- MedGen UID: 1644158
- Concept ID: C4551563
- Finding: Finding
Abnormality of the musculoskeletal system
- Micrognathia
Micrognathia
- MedGen UID: 44428
- Concept ID: C0025990
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Retrognathia
Retrognathia
- MedGen UID: 19766
- Concept ID: C0035353
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Camptodactyly
- Abnormality of the nervous system
- Dysplastic corpus callosum
Dysplastic corpus callosum
- MedGen UID: 98128
- Concept ID: C0431369
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Increased CSF lactate
Increased CSF lactate
- MedGen UID: 257904
- Concept ID: C1167918
- Finding: Finding
Abnormality of the nervous system
- Severe global developmental delay
Severe global developmental delay
- MedGen UID: 332436
- Concept ID: C1837397
- Finding: Finding
Abnormality of the nervous system
- Dysplastic corpus callosum
- Growth abnormality
- Failure to thrive
Failure to thrive
- MedGen UID: 746019
- Concept ID: C2315100
- Finding: Disease or Syndrome
Growth abnormality
- Failure to thrive
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