Optic atrophy 11

Preferred Label : Optic atrophy 11;

Symbol : OPA11;

CISMeF acronym : OPA11;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the mitochondrial escape 1-like 1 gene (YME1L1, 607472.0001);

Laboratory abnormalities : Increased serum and CSF lactate;

Prefixed ID : #617302;

Details

Origin ID

617302;

UMLS CUI

C4310628;

Currated CISMeF NLP mapping
- optic atrophy 11 [DO Concept]
DO Cross reference
- optic atrophy 11 [DO Concept]
Genes related to phenotype
- Mitochondrial escape 1-like 1 [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Amblyopia [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brain atrophy [HPO term]
- Cerebellar hypoplasia [HPO term]
- Dysmetria [HPO term]
- Facial diplegia [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- Hyperactivity [HPO term]
- Hyperkinetic movements [HPO term]
- Hypermetropia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Leukoencephalopathy [HPO term]
- Macrocephaly [HPO term]
- Macrotia [HPO term]
- Microcephaly [HPO term]
- Midface retrusion [HPO term]
- Myopia [HPO term]
- Optic atrophy [HPO term]
- Short stature [HPO term]
- Strabismus [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Autosomal recessive isolated optic atrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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