Mitochondrial DNA depletion syndrome 4b
- Synonyms
- MNGIE, POLG-RELATED; Mitochondrial DNA depletion syndrome 4B, MNGIE type; Mitochondrial Neurogastrointestinal Encephalopathy Disease, POLG-Related
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:
- Bruce H Cohen
- Patrick F Chinnery
- William C Copeland
- view full author information
Available tests
Clinical tests (107 available)
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 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 the digestive system
- Abdominal distention
Abdominal distention
- MedGen UID: 34
- Concept ID: C0000731
- Finding: Finding
Abnormality of the digestive system
- Constipation
Constipation
- MedGen UID: 1101
- Concept ID: C0009806
- Finding: Sign or Symptom
Abnormality of the digestive system
- Gastrointestinal dysmotility
Gastrointestinal dysmotility
- MedGen UID: 324638
- Concept ID: C1836923
- Finding: Finding
Abnormality of the digestive system
- Intestinal pseudo-obstruction
Intestinal pseudo-obstruction
- MedGen UID: 5864
- Concept ID: C0021847
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Malabsorption
Malabsorption
- MedGen UID: 811453
- Concept ID: C3714745
- Finding: Finding
Abnormality of the digestive system
- Malnutrition
Malnutrition
- MedGen UID: 56429
- Concept ID: C0162429
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Abdominal distention
- Abnormality of the eye
- Progressive external ophthalmoplegia
Progressive external ophthalmoplegia
- MedGen UID: 102439
- Concept ID: C0162674
- Finding: Disease or Syndrome
Abnormality of the eye
- Progressive external ophthalmoplegia
- Abnormality of the musculoskeletal system
- Cytochrome C oxidase-negative muscle fibers
Cytochrome C oxidase-negative muscle fibers
- MedGen UID: 867360
- Concept ID: C4021724
- Finding: Finding
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
- Generalized hypotonia
Generalized hypotonia
- MedGen UID: 346841
- Concept ID: C1858120
- Finding: Finding
Abnormality of the musculoskeletal system
- Generalized muscle weakness
Generalized muscle weakness
- MedGen UID: 155433
- Concept ID: C0746674
- Finding: Sign or Symptom
Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Inborn mitochondrial myopathy
Inborn mitochondrial myopathy
- MedGen UID: 56484
- Concept ID: C0162670
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Multiple mitochondrial DNA deletions
Multiple mitochondrial DNA deletions
- MedGen UID: 479006
- Concept ID: C3277376
- Finding: Finding
Abnormality of the musculoskeletal system
- Muscle weakness
Muscle weakness
- MedGen UID: 57735
- Concept ID: C0151786
- Finding: Finding
Abnormality of the musculoskeletal system
- Ragged-red muscle fibers
Ragged-red muscle fibers
- MedGen UID: 477048
- Concept ID: C3275417
- Finding: Finding
Abnormality of the musculoskeletal system
- Cytochrome C oxidase-negative muscle fibers
- Abnormality of the nervous system
- Abnormal cerebral white matter morphology
Abnormal cerebral white matter morphology
- MedGen UID: 181756
- Concept ID: C0948163
- Finding: Pathologic Function
Abnormality of the nervous system
- Cerebellar ataxia
Cerebellar ataxia
- MedGen UID: 849
- Concept ID: C0007758
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Sensory ataxic neuropathy
Sensory ataxic neuropathy
- MedGen UID: 336060
- Concept ID: C1843859
- Finding: Finding
Abnormality of the nervous system
- Abnormal cerebral white matter morphology
- Constitutional symptom
- Abdominal pain
Abdominal pain
- MedGen UID: 7803
- Concept ID: C0000737
- Finding: Sign or Symptom
Constitutional symptom
- Abdominal pain
- Ear malformation
- Hearing impairment
Hearing impairment
- MedGen UID: 235586
- Concept ID: C1384666
- Finding: Disease or Syndrome
Ear malformation
- Hearing impairment
- Growth abnormality
- Cachexia
Cachexia
- MedGen UID: 2773
- Concept ID: C0006625
- Finding: Sign or Symptom
Growth abnormality
- Slender build
Slender build
- MedGen UID: 376828
- Concept ID: C1850573
- Finding: Finding
Growth abnormality
- Weight loss
Weight loss
- MedGen UID: 853198
- Concept ID: C1262477
- Finding: Finding
Growth abnormality
- Cachexia
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