Mitochondrial dna depletion syndrome 4b (mngie type)

Preferred Label : Mitochondrial dna depletion syndrome 4b (mngie type);

Symbol : MTDPS4B;

CISMeF acronym : MTDPS4B;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mngie, polg-related; Mitochondrial neurogastrointestinal encephalopathy syndrome, polg-related;

Description : Mitochondrial DNA depletion syndrome-4B is an autosomal recessive progressive multisystem disorder clinically characterized by chronic gastrointestinal dysmotility and pseudoobstruction, cachexia, progressive external ophthalmoplegia (PEO), axonal sensory ataxic neuropathy, and muscle weakness (van Goethem et al., 2003). For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (603041).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the DNA polymerase-gamma gene (POLG, 174763.0006);

Prefixed ID : #613662;

Details

Origin ID

613662;

UMLS CUI

C3150914;

Automatic exact mappings (from CISMeF team)
- Mitochondrial neurogastrointestinal encephalomyopathy [ORDO Disease]
- POLG wt Allele [NCIt concept]
DO Cross reference
- mitochondrial DNA depletion syndrome 4b [DO Concept]
Genes related to phenotype
- Polymerase, dna, gamma [OMIM gene]
HPO term(s)
- Abdominal distention [HPO term]
- Abdominal pain [HPO term]
- Abnormal cerebral white matter morphology [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cachexia [HPO term]
- Constipation [HPO term]
- Gastrointestinal dysmotility [HPO term]
- Generalized hypotonia [HPO term]
- Generalized muscle weakness [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Malabsorption [HPO term]
- Malnutrition [HPO term]
- Mitochondrial myopathy [HPO term]
- Progressive [HPO term]
- Progressive external ophthalmoplegia [HPO term]
- Seizure [HPO term]
- Sensory ataxic neuropathy [HPO term]
- Slender build [HPO term]
- Variable expressivity [HPO term]
- Weight loss [HPO term]
ORDO concept(s)
- Mitochondrial neurogastrointestinal encephalomyopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients