Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy

Preferred Label : Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy;

CISMeF acronym : DOA ;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Dominant optic atrophy plus syndrome; DOA ;

Description : Syndromic optic atrophy, also known as DOA syndrome, is a neurologic disorder characterized most commonly by an insidious onset of visual loss and sensorineural hearing loss in childhood with variable presentation of other clinical manifestations including progressive external ophthalmoplegia (PEO), muscle cramps, hyperreflexia, and ataxia. There appears to be a wide range of intermediate phenotypes (Yu-Wai-Man et al., 2010).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the OPA1 mitochondrial dynamin-like GTPase gene (OPA1, 605290.0011);

Prefixed ID : #125250;

Détails

Origin ID

125250;

UMLS CUI

C3276549;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant optic atrophy plus syndrome [ORDO Disease]
- Autosomal dominant optic atrophy plus syndrome [ICD-11 More detail]
- dominant optic atrophy plus syndrome [DO Concept]
- hagemoser weinstein bresnick syndrome [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Autosomal dominant optic atrophy and congenital deafness [ORDO Disease]
- Deafness - optic atrophy syndrome [ICD-11 More detail]
- Konigsmark Knox Hussels syndrome [MeSH concept]
- konigsmark knox hussels syndrome [MeSH Supplementary Concept]
DO Cross reference
- dominant optic atrophy plus syndrome [DO Concept]
Genes related to phenotype
- Opa1 mitochondrial dynamin-like gtpase [OMIM gene]
HPO term(s)
- Abnormal amplitude of pattern reversal visual evoked potentials [HPO term]
- Abnormal auditory evoked potentials [HPO term]
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Central scotoma [HPO term]
- Centrocecal scotoma [HPO term]
- Gait disturbance [HPO term]
- Horizontal nystagmus [HPO term]
- Increased variability in muscle fiber diameter [HPO term]
- Myopathy [HPO term]
- Ophthalmoplegia [HPO term]
- Optic atrophy [HPO term]
- Peripheral neuropathy [HPO term]
- Polyneuropathy [HPO term]
- Progressive [HPO term]
- Progressive sensorineural hearing impairment [HPO term]
- Ptosis [HPO term]
- Red-green dyschromatopsia [HPO term]
- Reduced visual acuity [HPO term]
- Spasticity [HPO term]
- Strabismus [HPO term]
- Tritanomaly [HPO term]
- Visual impairment [HPO term]
- abnormal or absent auditory nerve and brainstem responses [HPO term]
ORDO concept(s)
- Autosomal dominant optic atrophy and congenital deafness [ORDO Disease]
- Autosomal dominant optic atrophy plus syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant optic atrophy plus syndrome (disorder) [SNOMED CT concept]
- dominant optic atrophy plus syndrome [DO Concept]

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