MCID: DNS005
MIFTS: 6

Duane Syndrome Type 3

Categories: Rare diseases

Aliases & Classifications for Duane Syndrome Type 3

MalaCards integrated aliases for Duane Syndrome Type 3:

Name: Duane Syndrome Type 3 53 6
Duane Retraction Syndrome 3 53

Classifications:



Summaries for Duane Syndrome Type 3

NIH Rare Diseases : 53 Duane syndrome type 3 is a disorder of eye movement. The affected eye, or eyes, has limited ability to move both inward toward the nose and outward toward the ears. The eye opening narrows and the eyeball pulls in when looking inward toward the nose. About 15 percent of all cases of Duane syndrome are type 3. Most cases occur without other signs and symptoms. In most people with Duane syndrome type 3, the cause is unknown; but it can sometimes be caused by mutations in the CHN1 gene and inherited in an autosomal dominant fashion.

MalaCards based summary : Duane Syndrome Type 3, also known as duane retraction syndrome 3, is related to duane retraction syndrome 3 with or without deafness. An important gene associated with Duane Syndrome Type 3 is MAFB (MAF BZIP Transcription Factor B). Affiliated tissues include eye.

Related Diseases for Duane Syndrome Type 3

Diseases in the Duane Syndrome Type 1 family:

Duane Syndrome Type 2 Duane Syndrome Type 3

Diseases related to Duane Syndrome Type 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 duane retraction syndrome 3 with or without deafness 12.5

Symptoms & Phenotypes for Duane Syndrome Type 3

Drugs & Therapeutics for Duane Syndrome Type 3

Search Clinical Trials , NIH Clinical Center for Duane Syndrome Type 3

Genetic Tests for Duane Syndrome Type 3

Anatomical Context for Duane Syndrome Type 3

MalaCards organs/tissues related to Duane Syndrome Type 3:

41
Eye

Publications for Duane Syndrome Type 3

Variations for Duane Syndrome Type 3

ClinVar genetic disease variations for Duane Syndrome Type 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MAFB NM_005461.4(MAFB): c.644delA (p.Gln215Argfs) deletion Pathogenic rs879255277 GRCh37 Chromosome 20, 39316847: 39316847
2 MAFB NM_005461.4(MAFB): c.644delA (p.Gln215Argfs) deletion Pathogenic rs879255277 GRCh38 Chromosome 20, 40688207: 40688207
3 MAFB NM_005461.4(MAFB): c.440delG (p.Gly147Alafs) deletion Pathogenic rs879255276 GRCh38 Chromosome 20, 40688411: 40688411
4 MAFB NM_005461.4(MAFB): c.440delG (p.Gly147Alafs) deletion Pathogenic rs879255276 GRCh37 Chromosome 20, 39317051: 39317051
5 MAFB MAFB, 600-KB DEL deletion Pathogenic

Expression for Duane Syndrome Type 3

Search GEO for disease gene expression data for Duane Syndrome Type 3.

Pathways for Duane Syndrome Type 3

GO Terms for Duane Syndrome Type 3

Sources for Duane Syndrome Type 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
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44 MeSH
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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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