Neuropathy, ataxia, and retinitis pigmentosa

Preferred Label : Neuropathy, ataxia, and retinitis pigmentosa;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Narp syndrome;

Inheritance : Mitochondrial;

Molecular basis : Caused by mutations in the mitochondrial ATP synthase 6 gene (MTATP6, 516060.0001);

Laboratory abnormalities : No histochemical evidence of mitochondrial myopathy.;

Prefixed ID : #551500;

Details

Origin ID

551500;

UMLS CUI

C1328349;

Automatic exact mappings (from CISMeF team)
- NARP syndrome [DO Concept]
- Neuropathy, ataxia, and retinitis pigmentosa [ICD-11 Subcategory]
CISMeF manual mappings
- Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- NARP syndrome [ORDO Disease]
- Neuropathy ataxia and retinitis pigmentosa [MeSH concept]
- Neuropathy ataxia and retinitis pigmentosa [MeSH Supplementary Concept]
DO Cross reference
- NARP syndrome [DO Concept]
HPO term(s)
- Ataxia [HPO term]
- Blindness [HPO term]
- Corticospinal tract atrophy [HPO term]
- Dementia [HPO term]
- Global developmental delay [HPO term]
- Mitochondrial inheritance [HPO term]
- Mitochondrial myopathy [HPO term]
- Myopathy [HPO term]
- Nystagmus [HPO term]
- Proximal muscle weakness [HPO term]
- Proximal neurogenic muscle weakness [HPO term]
- Retinal pigment epithelial mottling [HPO term]
- Retinopathy [HPO term]
- Rod-cone dystrophy [HPO term]
- Seizure [HPO term]
- Sensory neuropathy [HPO term]
ORDO concept(s)
- NARP syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- NARP syndrome [ORDO Disease]
- NARP syndrome [DO Concept]
- Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder) [SNOMED CT concept]
- Neuropathy ataxia and retinitis pigmentosa [MeSH Supplementary Concept]
- Neuropathy ataxia and retinitis pigmentosa [MeSH concept]
- Neuropathy, ataxia, retinitis pigmentosa syndrome [MedDRA Preferred Term]

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