Duane retraction syndrome 2

Preferred Label : Duane retraction syndrome 2;

Symbol : DURS2;

CISMeF acronym : DURS2;

Type : Phenotype, molecular basis known;

Description : Duane retraction syndrome (DURS) is a congenital disorder characterized by restricted horizontal eye movement with globe retraction and palpebral fissure narrowing on attempted adduction. DURS is observed in approximately 0.1% of the general population, accounts for 1 to 5% of all strabismus, and if untreated in childhood can result in loss of binocular vision and amblyopia. Postmortem examinations of individuals with sporadic DURS have shown absence of the abducens motor neurons and abducens cranial nerve on the affected side(s), and aberrant innervation of the lateral rectus by axons of the oculomotor nerve that normally innervate the medial rectus muscle. Most patients are affected unilaterally and have no family history of the disorder (summary by Miyake et al., 2010). For a discussion of genetic heterogeneity of Duane retraction syndrome, see DURS1 (126800).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in chimerin 1 gene (CHN1, 118423.0001);

Prefixed ID : #604356;

Détails

Origin ID

604356;

UMLS CUI

C0751083;

Automatic exact mappings (from CISMeF team)
- CHN1 wt Allele [NCIt concept]
- Duane's syndrome, type 2 (disorder) [SNOMED CT concept]
- duane retraction syndrome [MeSH Descriptor]
- symbol withdrawn DURS2 [HGNC gene]
Broader ORDO disease(s)
- Duane retraction syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- duane retraction syndrome, type 2 [MeSH concept]
- type 2 Duane retraction syndrome [Disease (Nov.)]
DO Cross reference
- Duane retraction syndrome [DO Concept]
Genes related to phenotype
- Chimerin 1 [OMIM gene]
HPO term(s)
- Amblyopia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Duane anomaly [HPO term]
- Strabismus [HPO term]
ORDO concept(s)
- Duane retraction syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- duane retraction syndrome, type 2 [MeSH concept]
- type 2 Duane retraction syndrome [Disease (Nov.)]

Position du mot-clé dans l'(les) arborescence(s) :

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