Details of Disease | DrugMAP

General Information of Disease (ID: DISGTEBP)

Disease Name	Duane-radial ray syndrome
Synonyms	Duane anomaly with radial abnormalities and deafness; acro-renal-ocular syndrome; Okihiro syndrome; Duane-radial ray syndrome; DRRS; acrorenocular syndrome; Duane anomaly with radial ray abnormalities and deafness; DR syndrome
Definition	A syndrome of multiple congenital anomalies and is characterized by ocular manifestations (uni- or bilateral Duane anomaly (95% of cases), congenital optic nerve hypoplasia or optic disk coloboma), bilateral deafness and radial ray malformation that can include thenar hypoplasia and/or hypoplasia or aplasia of the thumbs; hypoplasia or aplasia of the radii; shortening and radial deviation of the forearms; triphalangeal thumbs; and duplication of the thumb (preaxial polydactyly).The phenotype overlaps with other SALL4>/i> related disorders including acro-renal-ocular syndrome and Holt-Oram syndrome (see these terms). Transmission is autosomal dominant.
Disease Hierarchy	DIS6SVEE: Syndromic disease DIS3LICD: Congenital limb malformation DIS5M94B: Non-syndromic limb reduction defect DISHPNVX: Dysplasia DIS3HIWD: Autosomal dominant disease DISGTEBP: Duane-radial ray syndrome
Disease Identifiers	MONDO ID MONDO_0011812 MESH ID D004370 UMLS CUI C1623209 OMIM ID 607323 MedGen ID 301647 Orphanet ID 93293 SNOMED CT ID 699867001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SALL4	OTC08PR5	Definitive	Autosomal dominant	[1]
------------------------------------------------------------------------------------

References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.