DUANE RETRACTION SYNDROME 2

General Information (adopted from Orphanet):

Synonyms, Signs: DURS2
Number of Symptoms 4
OrphanetNr:
OMIM Id: 604356
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000486) Strabismus 76% [HPO:probinson] 576 / 7739
2
(HPO:0000646) Amblyopia 48% [HPO:probinson] 42 / 7739
3
(HPO:0009921) Duane anomaly 9 / 7739
4
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Appukuttan et al. (1999) reported a large 4-generation Mexican family in which 25 living members were affected with Duane anomaly transmitted in an autosomal dominant pattern. Chung et al. (2000) studied 110 of the family members and examined ...
Molecular genetics OMIM Miyake et al. (2008) identified 7 heterozygous missense changes in the CHN1 gene (118423), which encodes 2 Rac-specific guanosine triphosphatase (GTPase)-activating alpha-chimerin isoforms. All 7 nucleotide substitutions cosegregated with the affected haplotypes. None were present in online SNP ...