Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
- Synonyms
- Mitochondrial DNA depletion syndrome type 6; Navajo neurohepatopathy; Navajo neuropathy
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- GeneReview Scope
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Ayman W El-Hattab
- Julia Wang
- Hongzheng Dai
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (82 available)
Biochemical Genetics Tests
Clinical features
Help- Abnormal cellular phenotype
- Decreased activity of mitochondrial complex I
Decreased activity of mitochondrial complex I
- MedGen UID: 393796
- Concept ID: C2677650
- Finding: Finding
Abnormal cellular phenotype
- Decreased activity of mitochondrial complex III
Decreased activity of mitochondrial complex III
- MedGen UID: 460434
- Concept ID: C3149083
- Finding: Finding
Abnormal cellular phenotype
- Decreased activity of mitochondrial complex IV
Decreased activity of mitochondrial complex IV
- MedGen UID: 866520
- Concept ID: C4020800
- Finding: Finding
Abnormal cellular phenotype
- Decreased activity of mitochondrial complex I
- Abnormality of limbs
- Autoamputation of digits
Autoamputation of digits
- MedGen UID: 343770
- Concept ID: C1852289
- Finding: Finding
Abnormality of limbs
- Autoamputation of digits
- Abnormality of metabolism/homeostasis
- Elevated circulating alanine aminotransferase concentration
Elevated circulating alanine aminotransferase concentration
- MedGen UID: 57740
- Concept ID: C0151905
- Finding: Finding
Abnormality of metabolism/homeostasis
- Elevated circulating aspartate aminotransferase concentration
Elevated circulating aspartate aminotransferase concentration
- MedGen UID: 57497
- Concept ID: C0151904
- Finding: Finding
Abnormality of metabolism/homeostasis
- Elevated gamma-glutamyltransferase level
Elevated gamma-glutamyltransferase level
- MedGen UID: 1370086
- Concept ID: C4476869
- Finding: Finding
Abnormality of metabolism/homeostasis
- Hypoglycemia
Hypoglycemia
- MedGen UID: 6979
- Concept ID: C0020615
- 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
- Metabolic acidosis
Metabolic acidosis
- MedGen UID: 65117
- Concept ID: C0220981
- Finding: Pathologic Function
Abnormality of metabolism/homeostasis
- Recurrent hypoglycemia
Recurrent hypoglycemia
- MedGen UID: 335382
- Concept ID: C1846288
- Finding: Finding
Abnormality of metabolism/homeostasis
- Elevated circulating alanine aminotransferase concentration
- Abnormality of the digestive system
- Abdominal distention
Abdominal distention
- MedGen UID: 34
- Concept ID: C0000731
- Finding: Finding
Abnormality of the digestive system
- Acute hepatic failure
Acute hepatic failure
- MedGen UID: 58125
- Concept ID: C0162557
- Finding: Disease or Syndrome
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
- Diarrhea
Diarrhea
- MedGen UID: 8360
- Concept ID: C0011991
- Finding: Sign or Symptom
Abnormality of the digestive system
- Hepatic failure
Hepatic failure
- MedGen UID: 88444
- Concept ID: C0085605
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Hepatic steatosis
Hepatic steatosis
- MedGen UID: 398225
- Concept ID: C2711227
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Hepatocellular carcinoma
Hepatocellular carcinoma
- MedGen UID: 389187
- Concept ID: C2239176
- Finding: Neoplastic Process
Abnormality of the digestive system
- Hepatocellular necrosis
Hepatocellular necrosis
- MedGen UID: 343247
- Concept ID: C1855038
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Hepatomegaly
Hepatomegaly
- MedGen UID: 42428
- Concept ID: C0019209
- Finding: Finding
Abnormality of the digestive system
- Jaundice
Jaundice
- MedGen UID: 43987
- Concept ID: C0022346
- Finding: Sign or Symptom
Abnormality of the digestive system
- Macrovesicular hepatic steatosis
Macrovesicular hepatic steatosis
- MedGen UID: 373290
- Concept ID: C1837256
- Finding: Finding
Abnormality of the digestive system
- Micronodular cirrhosis
Micronodular cirrhosis
- MedGen UID: 75640
- Concept ID: C0267812
- 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
- Prolonged neonatal jaundice
Prolonged neonatal jaundice
- MedGen UID: 347108
- Concept ID: C1859236
- Finding: Finding
Abnormality of the digestive system
- Reye syndrome-like episodes
Reye syndrome-like episodes
- MedGen UID: 340530
- Concept ID: C1850413
- Finding: Finding
Abnormality of the digestive system
- Vomiting
Vomiting
- MedGen UID: 12124
- Concept ID: C0042963
- Finding: Sign or Symptom
Abnormality of the digestive system
- Abdominal distention
- Abnormality of the eye
- Corneal ulceration
Corneal ulceration
- MedGen UID: 40486
- Concept ID: C0010043
- Finding: Disease or Syndrome
Abnormality of the eye
- Nystagmus
Nystagmus
- MedGen UID: 45166
- Concept ID: C0028738
- Finding: Disease or Syndrome
Abnormality of the eye
- Recurrent corneal erosions
Recurrent corneal erosions
- MedGen UID: 56353
- Concept ID: C0155119
- Finding: Disease or Syndrome
Abnormality of the eye
- Corneal ulceration
- Abnormality of the immune system
- Osteomyelitis leading to amputation due to slow healing fractures
Osteomyelitis leading to amputation due to slow healing fractures
- MedGen UID: 351263
- Concept ID: C1864975
- Finding: Finding
Abnormality of the immune system
- Osteomyelitis leading to amputation due to slow healing fractures
- Abnormality of the integument
- Acral ulceration
Acral ulceration
- MedGen UID: 1648438
- Concept ID: C4732740
- Finding: Finding
Abnormality of the integument
- Acral ulceration
- Abnormality of the musculoskeletal system
- Corneal scarring
Corneal scarring
- MedGen UID: 83899
- Concept ID: C0349702
- Finding: Finding
Abnormality of the musculoskeletal system
- Distal muscle weakness
Distal muscle weakness
- MedGen UID: 140883
- Concept ID: C0427065
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Increased susceptibility to fractures
Increased susceptibility to fractures
- MedGen UID: 234655
- Concept ID: C1390474
- Finding: Finding
Abnormality of the musculoskeletal system
- Progressive muscle weakness
Progressive muscle weakness
- MedGen UID: 68704
- Concept ID: C0240421
- Finding: Finding
Abnormality of the musculoskeletal system
- Skeletal muscle atrophy
Skeletal muscle atrophy
- MedGen UID: 892680
- Concept ID: C0541794
- Finding: Pathologic Function
Abnormality of the musculoskeletal system
- Corneal scarring
- Abnormality of the nervous system
- Areflexia
Areflexia
- MedGen UID: 115943
- Concept ID: C0234146
- Finding: Finding
Abnormality of the nervous system
- Broad-based gait
Broad-based gait
- MedGen UID: 167799
- Concept ID: C0856863
- Finding: Finding
Abnormality of the nervous system
- Cerebellar ataxia
Cerebellar ataxia
- MedGen UID: 849
- Concept ID: C0007758
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Decreased number of peripheral myelinated nerve fibers
Decreased number of peripheral myelinated nerve fibers
- MedGen UID: 346872
- Concept ID: C1858285
- Finding: Finding
Abnormality of the nervous system
- Diffuse leukoencephalopathy
Diffuse leukoencephalopathy
- MedGen UID: 358229
- Concept ID: C1868514
- Finding: Finding
Abnormality of the nervous system
- Distal sensory impairment
Distal sensory impairment
- MedGen UID: 335722
- Concept ID: C1847584
- Finding: Finding
Abnormality of the nervous system
- Dystonic disorder
Dystonic disorder
- MedGen UID: 3940
- Concept ID: C0013421
- Finding: Sign or Symptom
Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Hyporeflexia
Hyporeflexia
- MedGen UID: 195967
- Concept ID: C0700078
- Finding: Finding
Abnormality of the nervous system
- Loss of ambulation
Loss of ambulation
- MedGen UID: 332305
- Concept ID: C1836843
- Finding: Finding
Abnormality of the nervous system
- Motor delay
Motor delay
- MedGen UID: 381392
- Concept ID: C1854301
- Finding: Finding
Abnormality of the nervous system
- Pain insensitivity
Pain insensitivity
- MedGen UID: 488855
- Concept ID: C0344307
- Finding: Finding
Abnormality of the nervous system
- Painless fractures due to injury
Painless fractures due to injury
- MedGen UID: 325208
- Concept ID: C1837602
- Finding: Finding
Abnormality of the nervous system
- Peripheral neuropathy
Peripheral neuropathy
- MedGen UID: 18386
- Concept ID: C0031117
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Sensorimotor neuropathy
Sensorimotor neuropathy
- MedGen UID: 207266
- Concept ID: C1112256
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Areflexia
- 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
- Growth delay
Growth delay
- MedGen UID: 99124
- Concept ID: C0456070
- Finding: Pathologic Function
Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Failure to thrive
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