Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
- Synonyms
- Hepatocerebral Mitochondrial DNA Depletion Syndrome
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (17 available)
Clinical features
Help- Abnormality of metabolism/homeostasis
- Conjugated hyperbilirubinemia
Conjugated hyperbilirubinemia
- MedGen UID: 82787
- Concept ID: C0268307
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Elevated circulating alkaline phosphatase concentration
Elevated circulating alkaline phosphatase concentration
- MedGen UID: 727252
- Concept ID: C1314665
- Finding: Finding
Abnormality of metabolism/homeostasis
- Elevated circulating hepatic transaminase concentration
Elevated circulating hepatic transaminase concentration
- MedGen UID: 338525
- Concept ID: C1848701
- Finding: Finding
Abnormality of metabolism/homeostasis
- Hyperbilirubinemia
Hyperbilirubinemia
- MedGen UID: 86321
- Concept ID: C0311468
- Finding: Finding
Abnormality of metabolism/homeostasis
- Hypermethioninemia
Hypermethioninemia
- MedGen UID: 887708
- Concept ID: C4048705
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Hypertyrosinemia
Hypertyrosinemia
- MedGen UID: 742296
- Concept ID: C1879362
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Hypoalbuminemia
Hypoalbuminemia
- MedGen UID: 68694
- Concept ID: C0239981
- Finding: Finding
Abnormality of metabolism/homeostasis
- Hypoglycemia
Hypoglycemia
- MedGen UID: 6979
- Concept ID: C0020615
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Conjugated hyperbilirubinemia
- Abnormality of prenatal development or birth
- Polyhydramnios
Polyhydramnios
- MedGen UID: 6936
- Concept ID: C0020224
- Finding: Pathologic Function
Abnormality of prenatal development or birth
- Polyhydramnios
- Abnormality of the cardiovascular system
- Congestive heart failure
Congestive heart failure
- MedGen UID: 9169
- Concept ID: C0018802
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Congestive heart failure
- Abnormality of the digestive system
- Abdominal distention
Abdominal distention
- MedGen UID: 34
- Concept ID: C0000731
- Finding: Finding
Abnormality of the digestive system
- Ascites
Ascites
- MedGen UID: 416
- Concept ID: C0003962
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Cholestasis
Cholestasis
- MedGen UID: 925
- Concept ID: C0008370
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Cirrhosis of liver
Cirrhosis of liver
- MedGen UID: 7368
- Concept ID: C0023890
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Jaundice
Jaundice
- MedGen UID: 43987
- Concept ID: C0022346
- Finding: Sign or Symptom
Abnormality of the digestive system
- Liver failure
Liver failure
- MedGen UID: 88444
- Concept ID: C0085605
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Microvesicular hepatic steatosis
Microvesicular hepatic steatosis
- MedGen UID: 376784
- Concept ID: C1850415
- Finding: Finding
Abnormality of the digestive system
- Abdominal distention
- Abnormality of the genitourinary system
- 4-Hydroxyphenylpyruvic aciduria
4-Hydroxyphenylpyruvic aciduria
- MedGen UID: 376416
- Concept ID: C1848678
- Finding: Finding
Abnormality of the genitourinary system
- 4-hydroxyphenylacetic aciduria
4-hydroxyphenylacetic aciduria
- MedGen UID: 376417
- Concept ID: C1848680
- Finding: Finding
Abnormality of the genitourinary system
- 4-Hydroxyphenylpyruvic aciduria
- Abnormality of the musculoskeletal system
- Depletion of mitochondrial DNA in muscle tissue
Depletion of mitochondrial DNA in muscle tissue
- MedGen UID: 867163
- Concept ID: C4021521
- Finding: Finding
Abnormality of the musculoskeletal system
- Depletion of mitochondrial DNA in muscle tissue
- Abnormality of the nervous system
- Lethargy
Lethargy
- MedGen UID: 7310
- Concept ID: C0023380
- Finding: Sign or Symptom
Abnormality of the nervous system
- Lethargy
- Abnormality of the respiratory system
- Respiratory distress
Respiratory distress
- MedGen UID: 96907
- Concept ID: C0476273
- Finding: Sign or Symptom
Abnormality of the respiratory system
- Respiratory distress
- Growth abnormality
- Failure to thrive
Failure to thrive
- MedGen UID: 746019
- Concept ID: C2315100
- Finding: Disease or Syndrome
Growth abnormality
- Fetal growth restriction
Fetal growth restriction
- MedGen UID: 4693
- Concept ID: C0015934
- Finding: Pathologic Function
Growth abnormality
- Failure to thrive
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.